240. Phenylketonuria Clinical trials / Disease details
Clinical trials : 143 / Drugs : 90 - (DrugBank : 10) / Drug target gene : 1 - Drug target pathways : 5
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT01465100 (ClinicalTrials.gov) | July 2023 | 20/10/2011 | Liver Cell Transplant for Phenylketonuria | Hepatocyte Transplantation for Phenylketonuria | Phenylketonuria | Radiation: Preparative Radiation Therapy;Procedure: Hepatocyte Transplant;Drug: Immunosuppression;Other: Liver Evaluation;Behavioral: Neuro-psychological Assessment;Diagnostic Test: Whole body Phe oxidation testing;Procedure: Liver Biopsy | Ira Fox | NULL | Recruiting | 14 Years | 55 Years | All | 10 | Phase 1/Phase 2 | United States |
| 2 | NCT04272736 (ClinicalTrials.gov) | December 1, 2022 | 29/8/2018 | PKU Low Calorie Drink Study | Evaluating the Compliance, Acceptability, Safety and Tolerance of a Lower Calorie Protein Substitute for the Dietary Management of Phenylketonuria in Children and Adults - a Pilot Study | Phenylketonurias;Hyperphenylalaninaemia | Dietary Supplement: Low calorie protein substitute | Nutricia UK Ltd | NULL | Not yet recruiting | 3 Years | N/A | All | 30 | N/A | NULL |
| 3 | NCT05579548 (ClinicalTrials.gov) | October 4, 2022 | 11/10/2022 | A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding | A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding | Phenylketonuria, Maternal | Drug: Pegvaliase | BioMarin Pharmaceutical | Syneos Health | Recruiting | N/A | N/A | Female | 50 | United States | |
| 4 | EUCTR2021-000474-29-NL (EUCTR) | 12/08/2022 | 14/04/2022 | A study to see if PTC923 reliefs phenylketonuria symptoms | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria - PTC923-MD-003-PKU | Metabolic Disorders - Phenylketonuria MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one | PTC Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 178 | Phase 3 | United States;Portugal;Spain;Turkey;United Kingdom;Italy;France;Mexico;Canada;Brazil;Australia;Denmark;Georgia;Netherlands;Germany | ||
| 5 | NCT05270837 (ClinicalTrials.gov) | June 17, 2022 | 1/2/2022 | Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria | A Phase 3 Multi-Center Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase in Adolescent Subjects (Ages 12-17) With Phenylketonuria Featuring an Open-Label Randomized Two-Arm (Active vs Diet-Only Control) Design | Phenylketonuria (PKU) | Drug: Pegvaliase;Other: Diet Only | BioMarin Pharmaceutical | NULL | Recruiting | 12 Years | 17 Years | All | 54 | Phase 3 | United States;Germany |
| 6 | NCT05222178 (ClinicalTrials.gov) | June 3, 2022 | 21/12/2021 | Safety and Efficacy of HMI-103, a Gene Editing Development Candidate in Adults With Classical PKU Due to PAH Deficiency | A Phase 1, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of HMI-103 Administered Intravenously in Adult Participants With Classical PKU Due to PAH Deficiency | Phenylketonurias;PAH Deficiency;Phenylketonuria | Drug: HMI-103 | Homology Medicines, Inc | NULL | Recruiting | 18 Years | 55 Years | All | 9 | Phase 1 | United States |
| 7 | NCT05356377 (ClinicalTrials.gov) | May 25, 2022 | 27/4/2022 | Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU | A Preliminary Study of the Neurological and Neuropsychological Effects of Palynziq-Related Changes in Phenylalanine in Individuals With Phenylketonuria (PKU) | Phenylketonurias | Drug: Pegvaliase-Pqpz | University of Missouri-Columbia | BioMarin Pharmaceutical | Enrolling by invitation | 18 Years | 55 Years | All | 13 | United States | |
| 8 | NCT04898829 (ClinicalTrials.gov) | May 18, 2022 | 11/5/2021 | Evaluation of PKU Explore France | An Exploratory Study to Evaluate the Acceptability of PKU Explore, a Food for Special Medical Purposes, for Use in the Dietary Management of Phenylketonuria in Infants From 6 Months to 3 Years of Age With Regard to Product-acceptability, Tolerance, Phe Levels and Growth | Phenylketonurias | Dietary Supplement: PKU explore | Vitaflo International, Ltd | NULL | Recruiting | 6 Months | 3 Years | All | 10 | N/A | France |
| 9 | EUCTR2021-000474-29-DK (EUCTR) | 13/05/2022 | 10/03/2022 | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | Metabolic Disorders - Phenylketonuria MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one | PTC Therapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 178 | Phase 3 | Portugal;United States;France;Mexico;Canada;Spain;Brazil;Australia;Denmark;Netherlands;Germany;Italy | ||
| 10 | EUCTR2021-000474-29-ES (EUCTR) | 21/04/2022 | 19/10/2021 | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | Metabolic Disorders - Phenylketonuria MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one | PTC Therapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 178 | Phase 3 | Portugal;United States;Spain;Turkey;United Kingdom;Italy;France;Mexico;Canada;Brazil;Australia;Denmark;Georgia;Germany;Netherlands | ||
| 11 | NCT05166161 (ClinicalTrials.gov) | February 14, 2022 | 8/12/2021 | A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria | A Phase 3 Open-Label Extension Study of PTC923 in Phenylketonuria | Phenylketonuria | Drug: PTC923 | PTC Therapeutics | NULL | Recruiting | N/A | N/A | All | 200 | Phase 3 | United States;Australia;Brazil;Canada;Denmark;France;Georgia;Germany;Italy;Mexico;Netherlands;Portugal;Spain;Turkey;United Kingdom |
| 12 | EUCTR2021-000474-29-PT (EUCTR) | 02/02/2022 | 29/11/2021 | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | Metabolic Disorders - Phenylketonuria MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one | PTC Therapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 178 | Phase 3 | United States;Portugal;Spain;Turkey;United Kingdom;Italy;France;Mexico;Canada;Brazil;Australia;Denmark;Georgia;Germany;Netherlands | ||
| 13 | NCT05096988 (ClinicalTrials.gov) | November 23, 2021 | 14/10/2021 | Evaluation of PKU Sphere Liquid | A Study to Evaluate the Acceptability, Tolerance and Adherence of Children and Adults Consuming PKU Sphere Liquid, a Food for Special Medical Purposes (FSMP), for the Dietary Management of Phenylketonuria (PKU) | Phenylketonurias | Dietary Supplement: PKU sphere liquid | Vitaflo International, Ltd | NULL | Active, not recruiting | 3 Years | N/A | All | 19 | N/A | United Kingdom |
| 14 | NCT05099640 (ClinicalTrials.gov) | September 30, 2021 | 6/10/2021 | A Study of PTC923 in Participants With Phenylketonuria | A Phase 3 Study of PTC923 in Subjects With Phenylketonuria | Phenylketonuria | Drug: PTC923;Drug: Placebo | PTC Therapeutics | NULL | Recruiting | N/A | N/A | All | 178 | Phase 3 | United States;Australia;Brazil;Canada;Denmark;France;Georgia;Germany;Italy;Mexico;Netherlands;Portugal;Spain;Turkey;United Kingdom |
| 15 | NCT05051657 (ClinicalTrials.gov) | June 14, 2021 | 10/9/2021 | Evaluation of PKU Express Plus | A Study To Evaluate The Acceptability Of PKU Express Plus, A Food For Special Medical Purposes (FSMP), In Children And Adults With Phenylketonuria (PKU) | Phenylketonurias;PKU | Dietary Supplement: PKU express plus | Vitaflo International, Ltd | NULL | Recruiting | 3 Years | N/A | All | 15 | N/A | United Kingdom |
| 16 | EUCTR2021-001174-29-NL (EUCTR) | 31/05/2021 | 31/03/2021 | Effectiveness of methylphenidate for treating ADHD in adultswith PKU | Effectiveness of methylphenidate in adults with phenylketonuria and attention-deficit/hyperactivity disorder: An N-of-1 series - MPH4PKU | Phenylketonuria, ADHD;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Medikinet | Amsterdam UMC | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 5 | Phase 4 | Netherlands | ||
| 17 | NCT04879277 (ClinicalTrials.gov) | May 26, 2021 | 4/5/2021 | Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria | Etude de l'INflammation systémique de Bas GRade Chez Les Patients Adultes Atteints de PHénylcétonurie | Phenylketonuria | Biological: Blood samples | University Hospital, Tours | NULL | Completed | 18 Years | N/A | All | 40 | N/A | France |
| 18 | NCT04375592 (ClinicalTrials.gov) | February 1, 2021 | 21/4/2020 | Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria | XPhe Minis - Acceptability and Tolerance Market Research | Phenylketonurias;Hyperphenylalaninaemia;Tetrahydrobiopterin Deficiency | Dietary Supplement: Phenylalanine-free protein substitute in tablet form (XPhe minis) | metaX Institut fuer Diatetik GmbH | Birmingham Children's Hospital | Recruiting | 7 Years | 18 Years | All | 10 | United Kingdom | |
| 19 | NCT04256655 (ClinicalTrials.gov) | December 1, 2020 | 28/1/2020 | Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 in PKU Patients | A Phase 1, Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 After Multiple Ascending Oral Dose Administration to Patients With Phenylketonuria (PKU). | Phenylketonurias | Drug: cohort 1 0.225g;Drug: Cohort 2 0.75g;Drug: Cohort 3 2.25 g | Nestlé | NULL | Withdrawn | 18 Years | 65 Years | All | 0 | Phase 1 | NULL |
| 20 | NCT04480567 (ClinicalTrials.gov) | September 24, 2020 | 8/7/2020 | AAV Gene Therapy Study for Subjects With PKU | A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects With Phenylketonuria | Phenylketonuria (PKU) | Drug: BMN 307 | BioMarin Pharmaceutical | NULL | Active, not recruiting | 15 Years | N/A | All | 100 | Phase 1/Phase 2 | United States;United Kingdom |
| 21 | NCT05062226 (ClinicalTrials.gov) | September 16, 2020 | 6/9/2021 | GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR | Evaluating the Tolerance, Safety and Acceptability of GMP-based Protein Substitutes for the Dietary Management of Phenylketonuria and Tyrosinaemia in Children and Adults: a Case Study Series | PKU;Tyrosinemias | Dietary Supplement: PKU/TYR GMP Protein Substitute | Nutricia UK Ltd | NULL | Recruiting | 3 Years | N/A | All | 45 | N/A | United Kingdom |
| 22 | NCT04534842 (ClinicalTrials.gov) | August 25, 2020 | 24/8/2020 | Efficacy and Safety of SYNB1618 and SYNB1934 in Adult Patients With Phenylketonuria | An Open-label Study of the Efficacy and Safety of SYNB1618 and SYNB1934 in Patients With Phenylketonuria (SynPheny-1) | Phenylketonuria | Drug: SYNB1618;Drug: SYNB1934 | Synlogic | NULL | Completed | 18 Years | N/A | All | 20 | Phase 2 | United States |
| 23 | NCT04227080 (ClinicalTrials.gov) | June 2020 | 10/1/2020 | BH4 Responsiveness in PAH Deficiency PKU Patients | To Evaluate BH4 Responsiveness in PAH Deficiency PKU Patients Who Failed to Achieve 30% Blood Phe Reduction Within 24-hour BH4 Loading Test by Extending the Period of BH4 Response Test: A Pilot Study in Taiwan | Pku Phenylketonuria;PAH Deficiency | Drug: BH4 | Taipei Veterans General Hospital, Taiwan | BioMarin Pharmaceutical | Not yet recruiting | N/A | N/A | All | 40 | Phase 4 | NULL |
| 24 | NCT04302194 (ClinicalTrials.gov) | May 1, 2020 | 7/3/2020 | Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development. | Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development. | Phenylketonurias | Dietary Supplement: phenylalanine restricted diet | Assiut University | NULL | Not yet recruiting | 1 Month | 3 Years | All | 50 | NULL | |
| 25 | NCT04110496 (ClinicalTrials.gov) | January 29, 2020 | 23/9/2019 | Safety and Tolerability of RTX-134 in Adults With Phenylketonuria | A Phase 1b Open-Label Single Dose Safety, Tolerability, and Pharmacokinetics Study of RTX-134 in Adults With Phenylketonuria | Phenylketonurias | Drug: RTX-134 | Rubius Therapeutics | NULL | Terminated | 18 Years | N/A | All | 1 | Phase 1 | United States |
| 26 | NCT04679467 (ClinicalTrials.gov) | January 15, 2020 | 26/11/2020 | Evaluation of PKU Sphere in Italy | An Acceptability Study to Evaluate the Tolerance, Adherence and Metabolic Control of Patients With Phenylketonuria (PKU) Consuming PKU Sphere™, a Glycomacropeptide (GMP) Based Protein Substitute, When Introduced According to a Practical Guide to PKU Sphere. | Phenylketonurias;PKU | Dietary Supplement: PKU sphere | Vitaflo International, Ltd | NULL | Completed | 3 Years | N/A | All | 13 | N/A | Italy |
| 27 | EUCTR2019-001878-28-GB (EUCTR) | 17/12/2019 | 21/11/2019 | A Phase 1/2 study to evaluate the safety and efficacy of BMN 307 gene therapy in patients with phenylketonuria | A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects with Phenylketonuria and Plasma Phe Levels > 600 µmol/L - A Phase 1/2 study to evaluate the safety and efficacy of BMN 307 | Phenylketonuria MedDRA version: 20.0;Level: PT;Classification code 10034872;Term: Phenylketonuria;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Code: BMN 307 | BioMarin Pharmaceutical Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 100 | Phase 1;Phase 2 | United States;Taiwan;Spain;Turkey;Australia;Germany;Italy;United Kingdom | ||
| 28 | NCT04404530 (ClinicalTrials.gov) | October 8, 2019 | 21/5/2020 | Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU) | Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the Metabolome | Phenylketonurias | Drug: Palynziq | Emory University | BioMarin Pharmaceutical | Recruiting | 16 Years | N/A | All | 45 | United States | |
| 29 | NCT03924180 (ClinicalTrials.gov) | September 19, 2019 | 22/4/2019 | Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients | Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients | Adult Phenylketonuria Non Treated Patients | Dietary Supplement: Dietary Supplement for PKU patients | University Hospital, Tours | NULL | Completed | 18 Years | N/A | All | 13 | N/A | France |
| 30 | NCT03788343 (ClinicalTrials.gov) | August 19, 2019 | 17/12/2018 | Phenylalanine and Its Impact on Cognition | PICO: Phenylalanine and Its Impact on Cognition - Impact of Phenylalanine on Cognitive, Cerebral and Neurometabolic Parameters in Adult Patients With Phenylketonuria | Phenylketonuria | Dietary Supplement: Phenylalanine;Drug: Placebo | University Hospital Inselspital, Berne | University of Zurich | Completed | 18 Years | N/A | All | 90 | Phase 4 | Switzerland |
| 31 | NCT04014712 (ClinicalTrials.gov) | August 2019 | 3/7/2019 | O2 Transport and Utilization in Health and Lung Disease | Role of Nitric Oxide Coupling in Muscle Dysfunction With COPD | COPD;Tetrahydrobiopterin Deficiency;Oxidative Stress | Drug: Tetrahydrobiopterin;Drug: Placebo oral tablet | University of Massachusetts, Amherst | NULL | Not yet recruiting | 18 Years | 85 Years | All | 30 | Phase 1 | United States |
| 32 | NCT04224142 (ClinicalTrials.gov) | July 29, 2019 | 7/10/2019 | Evaluation of PKU Sphere in Maternal PKU | An Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or Pregnancy | Maternal Phenylketonuria | Dietary Supplement: PKU sphere | Vitaflo International, Ltd | University College London Hospitals | Recruiting | 16 Years | N/A | Female | 10 | United Kingdom | |
| 33 | NCT03939052 (ClinicalTrials.gov) | July 19, 2019 | 1/5/2019 | Protein Requirements in Adults With Phenylketonuria (PKU) | Protein Requirements in Phenylketonuria (PKU) Patients Compared Using PKU Sphere™ | Glycomacropeptide (GMP) and an L-amino Acid-based Product | Phenylketonuria | Dietary Supplement: Free amino acids intake | University of British Columbia | Vitaflo International, Ltd | Recruiting | 19 Years | 50 Years | All | 6 | N/A | Canada |
| 34 | NCT03333720 (ClinicalTrials.gov) | July 15, 2019 | 18/9/2017 | Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria | Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria | Phenylketonurias | Dietary Supplement: Phenylalanine-free protein substitute tablets | Nutricia UK Ltd | NULL | Withdrawn | 8 Years | 100 Years | All | 0 | N/A | NULL |
| 35 | EUCTR2018-000648-25-FR (EUCTR) | 05/07/2019 | 15/10/2018 | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management - OPTIC Study | Phenylketonuria (PKU) MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 76 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | France;Spain;Turkey;Austria;Russian Federation;Netherlands;Germany;Italy | ||
| 36 | EUCTR2018-000648-25-DE (EUCTR) | 28/06/2019 | 30/08/2018 | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management - OPTIC Study | Phenylketonuria (PKU) MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 85 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | France;Spain;Turkey;Austria;Netherlands;Germany;Italy | ||
| 37 | JPRN-JapicCTI-194642 | 13/6/2019 | 25/02/2019 | A Phase 3 Study to Assess the Safety and Efficacy of BMN 165 in Japanese Adults With Phenylketonuria | A Phase 3, Open-Label, Multi-Center Study to Assess the Safety and Efficacy of BMN 165 in Japanese Subjects 18 Years of Age and Older With Phenylketonuria | Phenylketonuria | Intervention name : BMN 165 INN of the intervention : pegvaliase Dosage And administration of the intervention : BMN 165 will be administered SC at dose levels of 2.5 to 60 mg. The minimum dose is a single weekly dose of 2.5 mg (for a total weekly dose of 2.5 mg). The maximum allowable daily dose is 40 mg/day (for a maximum weekly dose of 280 mg) after a minimum of 24 weeks on 20 mg/day during Part 1. Subjects may increase dose up to 60 mg/day in Part 2 (for a maximum weekly dose of 420 mg) after a minimum of 16 weeks on 40 mg/day. Control intervention name : - INN of the control intervention : - Dosage And administration of the control intervention : - | BioMarin Pharmaceutical Inc./CMIC Co., Ltd. | NULL | complete | 18 | 70 | BOTH | 10 | Phase 3 | Japan |
| 38 | NCT03952156 (ClinicalTrials.gov) | June 10, 2019 | 9/5/2019 | Gene Therapy Clinical Study in Adult PKU | A Phase 1/2 Open-Label, Randomized, Concurrently-Controlled, Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects With PAH Deficiency | Phenylketonurias;PAH Deficiency | Genetic: HMI-102 | Homology Medicines, Inc | NULL | Active, not recruiting | 18 Years | 55 Years | All | 28 | Phase 1/Phase 2 | United States |
| 39 | NCT04085666 (ClinicalTrials.gov) | June 1, 2019 | 3/8/2019 | Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU) | A Phase 1, Multi-center, Randomized, Double-blind, Placebo-controlled, Cross-over Study to Evaluate the Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of a Single Oral Dose of CDX-6114 in Patients With Phenylketonuria (PKU). | Phenylketonuria | Drug: CDX 6114;Other: Matching Placebo | Nestlé | NULL | Completed | 18 Years | 55 Years | All | 18 | Phase 1 | Australia;Germany |
| 40 | NCT03792451 (ClinicalTrials.gov) | January 17, 2019 | 31/12/2018 | Nutrition Status of Adults Treated With Pegvaliase | Nutrition Status of Adults With Phenylketonuria Treated With Pegvaliase | Phenylketonurias | Drug: Pegvaliase | Boston Children's Hospital | BioMarin Pharmaceutical | Completed | 18 Years | 65 Years | All | 18 | United States | |
| 41 | NCT03820804 (ClinicalTrials.gov) | January 7, 2019 | 19/10/2018 | Nutritional Status in Phenylketonuria | Trends in Nutritional Status of Patients With Phenylketonuria | Phenylketonurias | Other: Diet;Drug: Sapropterin | Universidade do Porto | Centro Hospitalar do Porto;BioMarin Pharmaceutical | Completed | 3 Years | N/A | All | 94 | Portugal | |
| 42 | NCT03771391 (ClinicalTrials.gov) | December 6, 2018 | 7/12/2018 | A 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKU | Multicentre Study Project to Evaluate the New Generation of Protein Supplements With Glycomacropeptide (GMP) in Patients With Phenylketonuria (PKU) Aged 10 Years and Older Over a 16 Week Period. | Phenylketonurias | Dietary Supplement: PKU Sphere | Vitaflo International, Ltd | Kreiskliniken Reutlingen;Johannes Gutenberg University Mainz | Active, not recruiting | 10 Years | N/A | All | 15 | N/A | Germany |
| 43 | NCT03694353 (ClinicalTrials.gov) | September 13, 2018 | 4/9/2018 | Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU | An Open-label Extension Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase (> 40 mg/Day Dose) in Adults With Phenylketonuria | Phenylketonuria (PKU) | Drug: Pegvaliase | BioMarin Pharmaceutical | NULL | Completed | 18 Years | 70 Years | All | 37 | Phase 3 | United States |
| 44 | NCT03519711 (ClinicalTrials.gov) | June 24, 2018 | 11/4/2018 | A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia | A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate the Safety, Pharmacokinetics and Preliminary Efficacy of CNSA-001(Sepiapterin) in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia | BH4 Deficiency;Hyperphenylalaninemia | Drug: CNSA-001 | PTC Therapeutics | NULL | Completed | 12 Months | N/A | All | 6 | Phase 1/Phase 2 | United States;Germany |
| 45 | NCT03419819 (ClinicalTrials.gov) | May 1, 2018 | 3/1/2018 | Evaluation of PKU Sphere | Evaluation of the Acceptability, Tolerance, and Satiety of PKU Sphere, a Glycomacropeptide (GMP) Based Medical Food in Patients With Phenylketonuria (PKU). | Phenylketonurias | Dietary Supplement: PKU Sphere | Vitaflo International, Ltd | Oregon Health and Science University | Completed | 3 Years | N/A | All | 28 | N/A | United States |
| 46 | NCT03516487 (ClinicalTrials.gov) | April 17, 2018 | 11/4/2018 | Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria | A Phase 1/2a, First-in-human, Oral Single and Multiple Dose-escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria to Evaluate Safety, Tolerability, Kinetics, and Pharmacodynamics | Phenylketonuria;Healthy | Drug: SYNB1618;Drug: Placebo | Synlogic | NULL | Completed | 18 Years | 64 Years | All | 70 | Phase 1/Phase 2 | United States |
| 47 | NCT02677870 (ClinicalTrials.gov) | January 22, 2018 | 26/1/2016 | The Effectiveness of Kuvan in Amish PKU Patients | The Effectiveness of High-Dose Synthetic BH4 (Saproterin Dihydrochloride or Kuvan) in Amish PKU Patients | Phenylketonuria | Drug: saproterin dihydrochloride;Other: Diet treatment | University Hospitals Cleveland Medical Center | BioMarin Pharmaceutical | Completed | 2 Years | 60 Years | All | 7 | Phase 4 | United States |
| 48 | NCT03864029 (ClinicalTrials.gov) | October 10, 2017 | 22/2/2019 | Retrospective Observational Safety Effectiveness With Kuvan in hpA | An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency | Tetrahydrobiopterin Deficiency | Drug: KUVAN | BioMarin Pharmaceutical | Quintiles, Inc. | Completed | N/A | N/A | All | 26 | China | |
| 49 | NCT03168399 (ClinicalTrials.gov) | June 8, 2017 | 24/5/2017 | Evaluation of PKU Explore | A Study to Evaluate the Acceptability of PKU Explore, a Renovated Phenylalanine Free Second Stage Protein Substitute for Use in the Dietary Management of Phenylketonuria in Infants From 6 Months to 5 Years of Age With Regard to Product Tolerance and Adherence. | Phenylketonuria;Inborn Errors of Metabolism | Dietary Supplement: PKU Explore | Vitaflo International, Ltd | Birmingham Women's and Children's NHS Foundation Trust | Completed | 6 Months | 5 Years | All | 22 | N/A | United Kingdom |
| 50 | NCT03167697 (ClinicalTrials.gov) | May 1, 2017 | 22/5/2017 | Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia | Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia | Phenylketonurias;Hyperphenylalaninaemia, Type I | Dietary Supplement: Synergy;Other: Routine | Nutricia UK Ltd | NULL | Completed | 16 Years | 100 Years | All | 14 | N/A | United Kingdom |
| 51 | NCT03058848 (ClinicalTrials.gov) | March 6, 2017 | 16/2/2017 | Evaluation of PKU Start | A Study to Evaluate the Acceptability of a New Phenylalanine Free Infant Formula for Use in the Dietary Management of Phenylketonuria in Infants From Birth to 2 Year of Age With Regard to Product Tolerance and Adherence. | Phenylketonuria;Inborn Errors of Metabolism | Dietary Supplement: PKU Start | Vitaflo International, Ltd | NULL | Completed | N/A | 2 Years | All | 10 | N/A | United Kingdom |
| 52 | NCT02915510 (ClinicalTrials.gov) | July 2016 | 8/8/2016 | GMP Drink for PKU Study | Evaluating the Tolerance, Safety and Acceptability of PKU GMPro, a Whey Protein Derived Feed for the Dietary Management of Phenylketonuria in Children and Adults - a Pilot Trial | Phenylketonuria | Dietary Supplement: Glycomacropeptide-based protein substitute | Nutricia UK Ltd | NULL | Completed | 3 Years | N/A | All | 40 | N/A | United Kingdom |
| 53 | NCT02440932 (ClinicalTrials.gov) | November 2014 | 30/4/2015 | Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis | Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis | Phenylketonuria (PKU) | Dietary Supplement: Phenylketonuria-type diet;Other: Normal (control) diet | University of Glasgow | NULL | Completed | 18 Years | 45 Years | Both | 26 | N/A | United Kingdom |
| 54 | EUCTR2010-024311-13-NL (EUCTR) | 13/05/2014 | 27/01/2014 | A clinical study, carried out in different centers and using a placebo, to assess the effect of a medicinal product, containing sapropterin as the active substance, on mental abilities in young adults suffering from phenylketonuria, a genetic disease in which an enzyme defect leads to accumulation of a waste product (phenylketone) which can be detected in urine. | A Multicenter, Double-Blind, Placebo Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults with Phenylketonuria - SIGNAL (SapropterIn on coGnitive abilities in youNg Adults with phenyLketonuria) | Phenylketonuria MedDRA version: 16.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan® INN or Proposed INN: Sapropterin Other descriptive name: SAPROPTERIN DIHYDROCHLORIDE | Merck KGaA | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 2 | France;Spain;Belgium;Germany;Netherlands;Italy;Switzerland | ||
| 55 | EUCTR2010-021343-41-NL (EUCTR) | 21/03/2014 | 30/11/2011 | Variations of blood phenylalanine and tyrosine in children with phenylketonuria under sapropterin | Effect of sapropterin on variations of blood phenylalanine and tyrosine over 24 hours and from day to day in children with phenylketonuria | Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder by a mutation in the gene for the enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. Left untreated, the disease will result in high concentrations of phenylalanine (Phe) in blood and tissues, likely resulting in severe mental retardation and behavioural problems. Treatment focusus on the restriction of dietary phenylalanine intake with supplementation of a synthetic phenylalaninefree amino acid mixture.;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan | University Medical Center Groningen | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Phase 4 | Netherlands | |||
| 56 | NCT01977820 (ClinicalTrials.gov) | February 2014 | 31/10/2013 | Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria | A Multicenter, Double-Blind, Placebo-Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria | Phenylketonuria | Drug: Sapropterin;Drug: Placebo | BioMarin Pharmaceutical | NULL | Terminated | 18 Years | 29 Years | All | 2 | Phase 2 | Italy;Switzerland;Belgium;Germany;Netherlands;Spain |
| 57 | EUCTR2010-024311-13-DE (EUCTR) | 02/01/2014 | 23/07/2013 | A clinical study, carried out in different centers and using a placebo, to assess the effect of a medicinal product, containing sapropterin as the active substance, on mental abilities in young adults suffering from phenylketonuria, a genetic disease in which an enzyme defect leads to accumulation of a waste product (phenylketone) which can be detected in urine. | A Multicenter, Double-Blind, Placebo Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults with Phenylketonuria - SIGNAL (SapropterIn on coGnitive abilities in youNg Adults with phenyLketonuria) | Phenylketonuria MedDRA version: 16.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan® INN or Proposed INN: Sapropterin Other descriptive name: SAPROPTERIN DIHYDROCHLORIDE | Merck KGaA | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 2 | France;Belgium;Spain;Netherlands;Germany;Italy;Switzerland | ||
| 58 | EUCTR2010-024311-13-BE (EUCTR) | 23/12/2013 | 25/09/2013 | A clinical study, carried out in different centers and using a placebo, to assess the effect of a medicinal product, containing sapropterin as the active substance, on mental abilities in young adults suffering from phenylketonuria, a genetic disease in which an enzyme defect leads to accumulation of a waste product (phenylketone) which can be detected in urine. | A Multicenter, Double-Blind, Placebo Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults with Phenylketonuria - SIGNAL (SapropterIn on coGnitive abilities in youNg Adults with phenyLketonuria) | Phenylketonuria MedDRA version: 16.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan® INN or Proposed INN: Sapropterin Other descriptive name: SAPROPTERIN DIHYDROCHLORIDE | Merck KGaA | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 2 | France;Spain;Belgium;Netherlands;Germany;Italy;Switzerland | ||
| 59 | EUCTR2010-024311-13-ES (EUCTR) | 21/11/2013 | 01/10/2013 | A clinical study, carried out in different centers and using a placebo, to assess the effect of a medicinal product, containing sapropterin as the active substance, on mental abilities in young adults suffering from phenylketonuria, a genetic disease in which an enzyme defect leads to accumulation of a waste product (phenylketone) which can be detected in urine. | A Multicenter, Double-Blind, Placebo Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults with Phenylketonuria - SIGNAL (SapropterIn on coGnitive abilities in youNg Adults with phenyLketonuria) | Phenylketonuria MedDRA version: 16.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan® INN or Proposed INN: Sapropterin Other descriptive name: SAPROPTERIN DIHYDROCHLORIDE | Merck KGaA | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 2 | France;Belgium;Spain;Netherlands;Germany;Italy;Switzerland | ||
| 60 | EUCTR2009-015844-41-ES (EUCTR) | 31/10/2013 | 16/01/2014 | A Study of the Long-term Effects on Mental Abilities of 4 to 5 Year-old Children with a Disease Caused by an Enzyme Defect (Phenylketonuria) that Have Been Treated with Kuvan® (a Medicinal Product aimed at Restoring the Defect) for 7 Years. | A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-Old Children with Phenylketonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years. - KOGNITO (Kuvan®'s effect on the cOGNITion of children with phenylketOnuria) | Phenylketonuria MedDRA version: 16.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | Merck KGaA | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 30 | Phase 4 | Spain;Germany;United Kingdom | ||
| 61 | NCT01965912 (ClinicalTrials.gov) | October 2013 | 16/10/2013 | Kuvan®'s Effect on the Cognition of Children With Phenylketonuria | A Phase 4 Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-Old Children With Phenylketonuria Treated With Sapropterin Dihydrochloride (Kuvan®) for 7 Years | Phenylketonuria | Drug: Kuvan® | BioMarin Pharmaceutical | NULL | Active, not recruiting | 4 Years | 5 Years | All | 34 | Phase 4 | Germany;Italy;Spain;United Kingdom |
| 62 | NCT01965691 (ClinicalTrials.gov) | October 2013 | 16/10/2013 | Protein Requirements in Children With Phenylketonuria (PKU) | Application of Stable Isotopes to Determine Protein Requirements in Children With Phenylketonuria (PKU) | Phenylketonuria | Dietary Supplement: Protein intake | University of British Columbia | Rare Disease Foundation, Vancouver, Canada;Saudi Arabian Cultural Bureau, Ottawa | Completed | 5 Years | 18 Years | All | 4 | N/A | Canada |
| 63 | EUCTR2010-024311-13-IT (EUCTR) | 21/09/2013 | 26/07/2013 | A clinical study, carried out in different centers and using a placebo, to assess the effect of a medicinal product, containing sapropterin as the active substance, on mental abilities in young adults suffering from phenylketonuria, a genetic disease in which an enzyme defect leads to accumulation of a waste product (phenylketone) which can be detected in urine. | A Multicenter, Double-Blind, Placebo Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults with Phenylketonuria - SIGNAL (SapropterIn on coGnitive abilities in youNg Adults with phenyLketonuria) | Phenylketonuria MedDRA version: 14.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan® INN or Proposed INN: Sapropterin Other descriptive name: SAPROPTERIN DIHYDROCHLORIDE | Merck KGaA | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 2 | France;Belgium;Spain;Netherlands;Germany;Switzerland;Italy | ||
| 64 | EUCTR2009-015844-41-DE (EUCTR) | 10/09/2013 | 13/06/2013 | A Study of the Long-term Effects on Mental Abilities of 4 to 5 Year-old Children with a Disease Caused by an Enzyme Defect (Phenylketonuria) that Have Been Treated with Kuvan® (a Medicinal Product aimed at Restoring the Defect) for 7 Years. | A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-Old Children with Phenylketonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years. - KOGNITO (Kuvan®’s effect on the cOGNITion of children with phenylketOnuria) | Phenylketonuria MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 60 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): yes | Spain;Germany;Italy;United Kingdom | ||
| 65 | EUCTR2009-015844-41-IT (EUCTR) | 02/09/2013 | 25/06/2013 | A Study of the Long-term Effects on Mental Abilities of 4 to 5 Year-old Children with a Disease Caused by an Enzyme Defect (Phenylketonuria) that Have Been Treated with Kuvan® (a Medicinal Product aimed at Restoring the Defect) for 7 Years. | A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-Old Children with Phenylketonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years. - KOGNITO (Kuvan®’s effect on the cOGNITion of children with phenylketOnuria) | Phenylketonuria MedDRA version: 14.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | Merck KGaA | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 30 | Phase 4 | Spain;Germany;United Kingdom;Italy | ||
| 66 | NCT01889862 (ClinicalTrials.gov) | July 29, 2013 | 18/6/2013 | Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU | A Four-Part, Phase 3, Randomized, Double-Blind, Placebo- Controlled, Four-Arm, Discontinuation Study to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self-Administered by Adults With Phenylketonuria (PKU) | Phenylketonuria (PKU) | Drug: BMN165 20mg/day;Drug: BMN165 40mg/day;Drug: Placebo | BioMarin Pharmaceutical | NULL | Completed | 18 Years | 70 Years | All | 215 | Phase 3 | United States |
| 67 | EUCTR2009-015844-41-GB (EUCTR) | 25/07/2013 | 13/06/2013 | A Study of the Long-term Effects on Mental Abilities of 4 to 5 Year-old Children with a Disease Caused by an Enzyme Defect (Phenylketonuria) that Have Been Treated with Kuvan® (a Medicinal Product aimed at Restoring the Defect) for 7 Years. | A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-Old Children with Phenylketonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years. - KOGNITO (Kuvan®’s effect on the cOGNITion of children with phenylketOnuria) | Phenylketonuria MedDRA version: 19.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan Product Name: Kuvan INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 4 | Spain;Germany;Italy;United Kingdom | ||
| 68 | NCT01819727 (ClinicalTrials.gov) | May 2013 | 18/3/2013 | An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 | A Phase 3, Open-Label, Randomized, Multi-Center Study to Assess the Safety & Tolerability of an Induction, Titration, and Maintenance Dose Regimen of BMN 165 Self Administered by Adults With PKU Not Previously Treated With BMN 165 | Phenylketonuria | Drug: BMN 165 | BioMarin Pharmaceutical | NULL | Completed | 18 Years | 70 Years | All | 261 | Phase 3 | United States |
| 69 | NCT01806051 (ClinicalTrials.gov) | March 2013 | 4/3/2013 | A Pilot Study on Diurnal Variation | A Pilot Study on the Diurnal Variation in PKU Patients With Kuvan | Phenylketonuria (PKU) | Drug: Kuvan | Dr. Linda Randolph | BioMarin Pharmaceutical | Terminated | 4 Years | N/A | All | 6 | N/A | United States |
| 70 | NCT01732471 (ClinicalTrials.gov) | November 2012 | 19/11/2012 | Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria | A Phase III Non-comparative Open-label Clinical Study to Evaluate the Response to and Safety of Kuvan (Sapropterin Dihydrochloride) After 6 Weeks of Treatment in Patients of 4 to 18 Years of Age With Phenylketonuria Who Have Elevated Blood Phenylalanine Levels | Phenylketonuria | Drug: Kuvan® | Merck KGaA | NULL | Completed | 4 Years | 18 Years | All | 90 | Phase 3 | Germany |
| 71 | NCT01560286 (ClinicalTrials.gov) | May 2012 | 5/3/2012 | A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks | A Phase II, Multi-center, Open-label, Dose-finding Study to Evaluate Safety, Efficacy and Tolerability of Subcutaneously (SC) Administered rAvPAL-PEG in Patients With PKU for 24 Weeks | Phenylketonuria | Biological: BMN 165 (rAvPAL-PEG) | BioMarin Pharmaceutical | NULL | Completed | 16 Years | 70 Years | All | 24 | Phase 2 | United States |
| 72 | NCT01617070 (ClinicalTrials.gov) | May 2012 | 8/6/2012 | Effects of Kuvan on Melatonin Secretion | Pilot Study to Evaluate Melatonin Secretion as a Marker of Decreased Serotonin in Individuals With PKU: Evaluation of the CNS Effects of Tetrahydrobiopterin | Phenylketonuria (PKU) | Drug: Kuvan;Dietary Supplement: Large Neutral Amino Acid Therapy | University of Southern California | BioMarin Pharmaceutical | Completed | 18 Years | N/A | All | 10 | Phase 4 | United States |
| 73 | NCT01541397 (ClinicalTrials.gov) | June 2011 | 11/7/2011 | Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy | Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy | Hyperphenylalaninemia;Phenylketonuria | Drug: Sapropterin | The University of Texas Health Science Center, Houston | BioMarin Pharmaceutical | Terminated | 18 Years | 50 Years | All | 6 | N/A | United States |
| 74 | NCT01395394 (ClinicalTrials.gov) | June 2011 | 23/6/2011 | Phenylketonuria, Oxidative Stress, and BH4 | The Ability of Kuvan® (Sapropterin Dihydrochloride) to Prevent Meal-induced Lipid Peroxidation and Endothelial Dysfunction in Patients With Phenylketonuria: a Pilot Study | Phenylketonuria | Drug: Kuvan;Other: Meal Challenge | Emory University | NULL | Terminated | 10 Years | 45 Years | All | 12 | Phase 2 | United States |
| 75 | NCT01376908 (ClinicalTrials.gov) | June 2011 | 17/6/2011 | Kuvan® in Phenylketonuria Patients Less Than 4 Years Old | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old. | Phenylketonuria | Drug: Kuvan®;Other: Phenylalanine (Phe)-restricted diet | BioMarin Pharmaceutical | NULL | Completed | N/A | 4 Years | All | 56 | Phase 3 | Austria;Belgium;Czechia;Germany;Italy;Netherlands;Slovakia;Turkey;United Kingdom;Czech Republic;Portugal |
| 76 | EUCTR2009-015768-33-DE (EUCTR) | 20/05/2011 | 04/11/2010 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 19.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd | NULL | Not Recruiting | Female: yes Male: yes | 56 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | ||
| 77 | EUCTR2009-015768-33-PT (EUCTR) | 13/05/2011 | 16/12/2010 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 14.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | Merck Serono S.A. - Geneva | NULL | Not Recruiting | Female: yes Male: yes | 50 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | ||
| 78 | EUCTR2009-015768-33-NL (EUCTR) | 03/05/2011 | 14/02/2011 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 14.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrochloride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | Merck Serono S.A. - Geneva | NULL | Not Recruiting | Female: yes Male: yes | 50 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Germany;Netherlands;Italy;United Kingdom | ||
| 79 | NCT01412437 (ClinicalTrials.gov) | April 2011 | 1/8/2011 | Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria | Multimodal Neuroimaging and Neurocognitive Assessment of Biomarkers and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria | PKU | Dietary Supplement: diet;Drug: sapropterin dihydrochloride | Children's Research Institute | Georgetown University | Withdrawn | 18 Years | 40 Years | Both | 0 | N/A | United States |
| 80 | EUCTR2009-015768-33-IT (EUCTR) | 15/03/2011 | 28/12/2011 | SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan) | A Phase IIIb, Multicenter, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK | Phenylketonuria MedDRA version: 14.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 14.1;Level: PT;Classification code 10034872;Term: Phenylketonuria;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: KUVAN INN or Proposed INN: SAPROPTERIN | MERCK SERONO SA | NULL | Not Recruiting | Female: yes Male: yes | 50 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;United Kingdom;Italy | ||
| 81 | NCT01212744 (ClinicalTrials.gov) | March 2011 | 29/9/2010 | Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) | A Phase 2, Open-Label Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Dose Levels of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria | Phenylketonuria | Drug: rAvPAL-PEG | BioMarin Pharmaceutical | NULL | Completed | 16 Years | 70 Years | All | 16 | Phase 2 | United States |
| 82 | EUCTR2009-015768-33-BE (EUCTR) | 16/02/2011 | 19/01/2011 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 18.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd | NULL | Not Recruiting | Female: yes Male: yes | 50 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | ||
| 83 | EUCTR2009-015768-33-SK (EUCTR) | 10/02/2011 | 03/11/2010 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 18.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd | NULL | Not Recruiting | Female: yes Male: yes | 50 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | ||
| 84 | EUCTR2009-015768-33-AT (EUCTR) | 05/01/2011 | 25/11/2010 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 18.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd | NULL | Not Recruiting | Female: yes Male: yes | 54 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | ||
| 85 | EUCTR2009-015768-33-GB (EUCTR) | 04/01/2011 | 11/10/2010 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 19.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 56 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | ||
| 86 | NCT01274026 (ClinicalTrials.gov) | January 2011 | 10/1/2011 | Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders | Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression in PKU Nonresponders to Kuvan® (Sapropterin Dihydrochloride) | Phenylketonuria;Behavior and Behavior Mechanisms;PAH Gene Expression | Drug: sapropterin dihydrochloride | Tulane University School of Medicine | BioMarin Pharmaceutical | Completed | 2 Years | N/A | All | 21 | United States | |
| 87 | EUCTR2009-015768-33-CZ (EUCTR) | 15/12/2010 | 10/12/2010 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 19.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850 | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP INN or Proposed INN: SAPROPTERIN Other descriptive name: tetrahydrobiopterin | BioMarin International Ltd | NULL | Not Recruiting | Female: yes Male: yes | 56 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | ||
| 88 | EUCTR2010-019767-11-AT (EUCTR) | 08/09/2010 | 10/08/2010 | Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1 | Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1 | Hyperphenylalaninaemia (HPA) in adult and paediatric patients of 4 years of age and over with phenylketonuria (PKU). | Trade Name: Kuvan | Graz Medical University | NULL | Not Recruiting | Female: yes Male: yes | Austria | ||||
| 89 | NCT01114737 (ClinicalTrials.gov) | August 2010 | 27/4/2010 | Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients | A Double-blind, Placebo-controlled, Randomized Study to Evaluate the Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Subjects With Phenylketonuria | Phenylketonuria | Drug: Sapropterin dihydrochloride;Drug: Placebo | BioMarin Pharmaceutical | NULL | Completed | 8 Years | 65 Years | All | 206 | Phase 3 | United States;Canada |
| 90 | NCT01082328 (ClinicalTrials.gov) | May 2010 | 5/3/2010 | Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period | ENDURE: A Phase IV, Prospective, Open-label, Uncontrolled, Multi-centre Cohort Trial to Assess the Responsiveness of Subjects With Phenylketonuria (PKU) to Treatment With Kuvan® 20 mg/kg/Day for 28 Days | Phenylketonuria | Drug: Kuvan® | Merck KGaA | Merck Serono Norway;Smerud Medical Research International AS | Completed | 4 Years | N/A | All | 59 | Phase 4 | Norway |
| 91 | EUCTR2009-018168-81-DK (EUCTR) | 16/04/2010 | 03/03/2010 | ENDURE: A Phase IV, prospective, open-label, uncontrolled, multi-centre cohort trial to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 28 days - ENDURE | ENDURE: A Phase IV, prospective, open-label, uncontrolled, multi-centre cohort trial to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 28 days - ENDURE | Subjects diagnosed with Phenylketonuria (PKU) (classic or mild PKU, or mild hyperphenylalaninaemia (HPA)). MedDRA version: 14.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 10010331 - Congenital, familial and genetic disorders | Trade Name: Kuvan INN or Proposed INN: Sapropterindihydrochloride Other descriptive name: SAPROPTERIN HYDROCHLORIDE | Merck Serono Norway | NULL | Not Recruiting | Female: yes Male: yes | 70 | Phase 4 | Denmark | ||
| 92 | NCT00986973 (ClinicalTrials.gov) | March 2010 | 28/9/2009 | Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy | A Pilot Study of FDG PET Findings in Patients With Phenylketonuria Before and After BH4 Supplementation | Phenylketonuria | Drug: Sapropterin | Children's Hospital of Philadelphia | NULL | Completed | 18 Years | 50 Years | All | 6 | N/A | United States |
| 93 | NCT00924703 (ClinicalTrials.gov) | October 8, 2009 | 18/6/2009 | Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) | Long-term Extension of a Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects With PKU | Phenylketonuria | Drug: rAvPAL-PEG | BioMarin Pharmaceutical | NULL | Completed | 16 Years | 55 Years | All | 68 | Phase 2 | United States |
| 94 | NCT00925054 (ClinicalTrials.gov) | September 2009 | 17/6/2009 | Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU | Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous (SC) Doses of rAvPAL-PEG in Subjects With PKU | Phenylketonuria | Drug: rAvPAL-PEG 0.001 mg/kg;Drug: rAvPAL-PEG 0.003 mg/kg;Drug: rAvPAL-PEG 0.01 mg/kg;Drug: rAvPAL-PEG 0.03 mg/kg;Drug: rAvPAL-PEG 0.1 mg/kg | BioMarin Pharmaceutical | NULL | Completed | 16 Years | 55 Years | All | 40 | Phase 2 | United States |
| 95 | NCT00964236 (ClinicalTrials.gov) | August 2009 | 21/8/2009 | The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) | The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) | Phenylketonuria | Drug: Sapropterin | University of Missouri-Columbia | BioMarin Pharmaceutical | Completed | 6 Years | N/A | All | 20 | United States | |
| 96 | NCT00838435 (ClinicalTrials.gov) | February 2009 | 5/2/2009 | Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU | A Phase 3b Open-Label Study to Evaluate the Effect of Kuvan® on Neurocognitive Function, Maintenance of Blood Phenylalanine Concentrations, Safety, and Population Pharmacokinetics in Young Children With Phenylketonuria | Phenylketonuria | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | NULL | Completed | N/A | 6 Years | All | 95 | Phase 3 | United States;Canada |
| 97 | NCT00827762 (ClinicalTrials.gov) | January 2009 | 21/1/2009 | Behavioral Effects of Kuvan in Children With Mild Phenylketonuria | Behavioral Effects of Kuvan in Children With Mild Phenylketonuria | Phenylketonuria | Drug: Kuvan | Washington University School of Medicine | BioMarin Pharmaceutical;University of Missouri-Columbia;Northwestern University;Oregon Health and Science University | Terminated | 6 Years | 18 Years | Both | 2 | N/A | United States |
| 98 | NCT00841100 (ClinicalTrials.gov) | December 2008 | 10/2/2009 | Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response | Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response | Phenylketonuria | Drug: Kuvan;Other: Diet | University of Miami | NULL | Completed | 4 Years | N/A | All | 21 | Phase 2 | United States |
| 99 | NCT00789568 (ClinicalTrials.gov) | October 2008 | 10/11/2008 | A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects | A Phase 1, Randomized, Placebo- and Active-controlled Crossover Study to Evaluate the Effects of Sapropterin Dihydrochloride Oral Administration on QTc Intervals in Healthy Adult Subjects | Phenylketonuria | Drug: sapropterin dihydrochloride;Drug: Moxifloxacin;Drug: Moxifloxacin placebo | BioMarin Pharmaceutical | NULL | Completed | 18 Years | 50 Years | All | 56 | Phase 1 | United States |
| 100 | NCT00688844 (ClinicalTrials.gov) | October 2008 | 29/5/2008 | Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 | Baseline Evaluation and Long-term Follow-up of Nutritional Status and Neurotransmitter Concentrations in Phenylketonuria Patients Initiating Treatment With Sapropterin Dihydrochloride (KuvanTM), a Tetrahydrobiopterin Analog. | Phenylketonuria | Drug: KuvanTM Therapy | Emory University | BioMarin Pharmaceutical;Atlanta Clinical and Translational Science Institute | Completed | 4 Years | N/A | All | 58 | N/A | United States |
| 101 | NCT00778206 (ClinicalTrials.gov) | September 2008 | 21/10/2008 | PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry | PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry | Phenylketonuria;Hyperphenylalaninaemia | Drug: Kuvan | BioMarin Pharmaceutical | NULL | Completed | N/A | N/A | All | 1887 | United States;Puerto Rico | |
| 102 | NCT00730080 (ClinicalTrials.gov) | July 2008 | 1/8/2008 | Sapropterin in Individuals With Phenylketonuria | Effects of Sapropterin on Brain and Cognition in Individuals With Phenylketonuria | Phenylketonuria | Drug: Sapropterin (Kuvan) | Washington University School of Medicine | BioMarin Pharmaceutical;University of Missouri-Columbia | Completed | 6 Years | 50 Years | All | 45 | United States | |
| 103 | NCT00634660 (ClinicalTrials.gov) | May 2008 | 6/3/2008 | Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria | A Phase I, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single, Subcutaneous Doses of rAvPAL-PEG in Subjects With Phenylketonuria | Phenylketonuria | Drug: rAvPAL-PEG | BioMarin Pharmaceutical | NULL | Completed | 16 Years | 50 Years | All | 25 | Phase 1 | United States |
| 104 | NCT00892554 (ClinicalTrials.gov) | June 2007 | 1/5/2009 | The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU) | The Impact of Docosahexaenoic Acid on Neuropsychological Status in Females With Phenylketonuria | Phenylketonuria | Dietary Supplement: Docosahexaenoic Acid;Dietary Supplement: Corn/soy oil | Emory University | Atlanta Clinical and Translational Science Institute | Completed | 12 Years | 50 Years | Female | 33 | N/A | United States |
| 105 | NCT00432822 (ClinicalTrials.gov) | February 2007 | 7/2/2007 | Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety | Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency | Phenylalanine Hydroxylase Deficiencies | Drug: tetrahydrobiopterin (BH4) | Orphanetics Pharma Entwicklungs GmbH | NULL | Terminated | N/A | 18 Years | Both | 50 | Phase 2/Phase 3 | NULL |
| 106 | NCT00484991 (ClinicalTrials.gov) | February 2007 | 8/6/2007 | Sapropterin Expanded Access Program | Sapropterin Expanded Access Program | Phenylketonuria | Drug: Sapropterin dihydrochloride | BioMarin Pharmaceutical | NULL | Approved for marketing | 9 Years | N/A | Both | N/A | United States | |
| 107 | EUCTR2006-000839-10-ES (EUCTR) | 06/10/2006 | 13/07/2006 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006Estudio de extensión fase 3b, multicéntrico y abierto de PhenoptinTM en sujetos fenilcetonúricos que participaron en los estudios PKU-004 o PKU-006 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006Estudio de extensión fase 3b, multicéntrico y abierto de PhenoptinTM en sujetos fenilcetonúricos que participaron en los estudios PKU-004 o PKU-006 | Fenilcetonuria (PKU) MedDRA version: 8.1;Level: LLT;Classification code 10034872;Term: Phenylketonuria | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 128 | Phase 3 | United Kingdom;Germany;Ireland;Spain;Italy | ||
| 108 | EUCTR2006-000839-10-IT (EUCTR) | 07/09/2006 | 02/08/2007 | A Phase 3b, Multicenter, Open?Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Studies PKU?004 or PKU?006 - ND | A Phase 3b, Multicenter, Open?Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Studies PKU?004 or PKU?006 - ND | phenylketonuria Level: PTClassification code 10034872 | Trade Name: Phenoptin INN or Proposed INN: Sapropterin | BIOMARIN | NULL | Not Recruiting | Female: yes Male: yes | 128 | Phase 3 | United Kingdom;Germany;Spain;Ireland;Italy | ||
| 109 | EUCTR2006-000839-10-IE (EUCTR) | 02/09/2006 | 12/06/2006 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | Phenylketonuria (PKU) MedDRA version: 8.1;Level: LLT;Classification code 10034872;Term: Phenylketonuria | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 128 | Phase 3 | United Kingdom;Germany;Spain;Ireland;Italy | ||
| 110 | EUCTR2005-003777-24-GB (EUCTR) | 17/08/2006 | 20/04/2006 | A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Phenoptin 20 mg/kg/day to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet - NA | A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Phenoptin 20 mg/kg/day to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 300 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | Spain;Germany;United Kingdom | ||
| 111 | EUCTR2006-000839-10-GB (EUCTR) | 14/08/2006 | 20/09/2006 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | Phenylketonuria (PKU) MedDRA version: 8.1;Level: LLT;Classification code 10034872;Term: Phenylketonuria | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 128 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | Spain;Ireland;Germany;Italy;United Kingdom | ||
| 112 | EUCTR2006-000839-10-DE (EUCTR) | 09/08/2006 | 26/05/2006 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 128 | Phase 3 | United Kingdom;Germany;Spain;Ireland;Italy | ||
| 113 | NCT00355264 (ClinicalTrials.gov) | August 2006 | 19/7/2006 | Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency | Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency | Tetrahydrobiopterin Deficiencies;Hyperphenylalaninemia, Non-Phenylketonuric | Drug: Phenoptin | BioMarin Pharmaceutical | NULL | Completed | N/A | N/A | All | 12 | Phase 2 | United States;Germany |
| 114 | EUCTR2005-003778-13-DE (EUCTR) | 13/07/2006 | 14/06/2006 | A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency | A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency | Phenylketonuria (PKU) MedDRA version: 8.1;Level: LLT;Classification code 10034872;Term: Phenylketonuria | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: saproterin dihydrochloride | BioMarin Pharmaceutical Inc | NULL | Not Recruiting | Female: yes Male: yes | 15 | Phase 2 | Germany | ||
| 115 | NCT00332189 (ClinicalTrials.gov) | July 2006 | 30/5/2006 | Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 | Phenylketonuria | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | NULL | Completed | 4 Years | N/A | All | 111 | Phase 3 | United States |
| 116 | EUCTR2006-000648-15-AT (EUCTR) | 08/06/2006 | 05/04/2006 | A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency | A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency | Hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Phenotypes: classic phenylketonuria (PKU), mild PKU (MPK) or mild hyperphenylalaninemia (HPA). MedDRA version: 81;Level: LLT;Classification code 10034873 | Product Name: tetrahydrobiopterin Product Code: BH4 INN or Proposed INN: Sapropterin Other descriptive name: n.a. | ORPHANETICS Pharma Entwicklungs- GmbH | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 75 | Austria | |||
| 117 | EUCTR2005-003777-24-DE (EUCTR) | 24/03/2006 | 14/12/2005 | A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Phenoptin 20 mg/kg/day to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet - NA | A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Phenoptin 20 mg/kg/day to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 300 | Phase 3 | Germany;Spain | ||
| 118 | EUCTR2005-003777-24-ES (EUCTR) | 01/03/2006 | 19/01/2006 | Estudio fase 3, multicéntrico, aleatorizado, doble ciego y controlado con placebo para evaluar la seguridad y la eficacia de PhenoptinTM en dosis de 20 mg/kg/dia para aumentar la tolerancia a la fenilalanina en niños fenilcetonúricos que siguen dietas restrictivas en fenilalanina. | Estudio fase 3, multicéntrico, aleatorizado, doble ciego y controlado con placebo para evaluar la seguridad y la eficacia de PhenoptinTM en dosis de 20 mg/kg/dia para aumentar la tolerancia a la fenilalanina en niños fenilcetonúricos que siguen dietas restrictivas en fenilalanina. | Fenilcetonuria (Phenylketonuria-PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin Other descriptive name: Sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 300 | Phase 3 | Spain;Germany;United Kingdom | ||
| 119 | NCT00225615 (ClinicalTrials.gov) | November 2005 | 22/9/2005 | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonurias | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | NULL | Completed | 8 Years | N/A | Both | 100 | Phase 3 | United States |
| 120 | EUCTR2004-004513-41-DE (EUCTR) | 27/10/2005 | 12/05/2006 | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | Ireland;Germany;Italy;United Kingdom | ||
| 121 | EUCTR2004-004513-41-GB (EUCTR) | 25/10/2005 | 02/06/2005 | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin dihydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Human pharmacology (Phase 1): Therapeutic exploratory (Phase 2): Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): | Ireland;Germany;Italy;United Kingdom | ||
| 122 | EUCTR2004-004513-41-IT (EUCTR) | 23/09/2005 | 11/11/2005 | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | Treatment of phenylketonuria MedDRA version: 6.1;Level: SOC;Classification code 10027433 | Product Name: Phenoptin | BIOMARIN | NULL | Not Recruiting | Female: yes Male: yes | 50 | Phase 3 | Germany;United Kingdom;Ireland;Italy | ||
| 123 | EUCTR2004-004513-41-IE (EUCTR) | 19/08/2005 | 10/06/2005 | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin hydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Human pharmacology (Phase 1): Therapeutic exploratory (Phase 2): Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): | Ireland;Germany;Italy;United Kingdom | ||
| 124 | EUCTR2004-004512-23-GB (EUCTR) | 15/08/2005 | 23/02/2005 | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin hydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Human pharmacology (Phase 1): Therapeutic exploratory (Phase 2): Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): | Ireland;Germany;Italy;United Kingdom | ||
| 125 | EUCTR2004-004512-23-IT (EUCTR) | 09/06/2005 | 22/06/2005 | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | Treatment of phenylketonuria MedDRA version: 6.1;Level: SOC;Classification code 10027433 | Product Name: Phenoptin | BIOMARIN | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | Germany;United Kingdom;Ireland;Italy | ||
| 126 | EUCTR2004-004512-23-IE (EUCTR) | 22/05/2005 | 15/02/2005 | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin hydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Human pharmacology (Phase 1): Therapeutic exploratory (Phase 2): Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): | Ireland;Germany;Italy;United Kingdom | ||
| 127 | NCT00244218 (ClinicalTrials.gov) | April 2005 | 25/10/2005 | Response to Phenylketonuria to Tetrahydrobiopterin (BH4) | Response to Phenylketonuria to Tetrahydrobiopterin (BH4) | Phenylketonuria | Drug: tetrahydrobiopterin (BH4) | The University of Texas Medical Branch, Galveston | NULL | Terminated | 10 Years | N/A | All | 57 | Phase 1 | United States |
| 128 | NCT00260000 (ClinicalTrials.gov) | April 2005 | 30/11/2005 | Study of BH4, a New and Simple Treatment of Mild PKU | Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation | Phenylketonuria | Drug: 5,6,7,8-tetrahydrobiopterin | The Kennedy Institute-National Eye Clinic | Sygekassernes Helsefond | Completed | 8 Years | N/A | Both | 15 | Phase 2 | Denmark |
| 129 | EUCTR2004-002071-16-GB (EUCTR) | 18/03/2005 | 22/02/2005 | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin hydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 700 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Ireland;Germany;Italy;United Kingdom | ||
| 130 | EUCTR2004-002071-16-IT (EUCTR) | 17/03/2005 | 27/04/2005 | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | Treatment of Phenylketonuria MedDRA version: 6.1;Level: SOC;Classification code 10027433 | Product Name: Phenoptin Product Code: NA INN or Proposed INN: sapropterin hydrochloride Other descriptive name: NA | BIOMARIN | NULL | Not Recruiting | Female: yes Male: yes | Phase 2 | United Kingdom;Germany;Italy | |||
| 131 | NCT00104247 (ClinicalTrials.gov) | March 2005 | 24/2/2005 | Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonurias | Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin | BioMarin Pharmaceutical | NULL | Completed | 8 Years | N/A | All | 89 | Phase 3 | United States |
| 132 | EUCTR2004-002071-16-DE (EUCTR) | 28/01/2005 | 14/10/2004 | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin hydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 700 | Phase 2 | United Kingdom;Germany;Italy | ||
| 133 | NCT00104260 (ClinicalTrials.gov) | December 2004 | 24/2/2005 | Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonurias | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | NULL | Completed | 8 Years | N/A | Both | 700 | Phase 2 | United States |
| 134 | EUCTR2004-002365-21-DK (EUCTR) | 03/11/2004 | 09/07/2008 | Trial with BH4, a new and simple treatment of phenylketonuria, PKU - BH4 and PKU | Trial with BH4, a new and simple treatment of phenylketonuria, PKU - BH4 and PKU | PKU, phenylketonuria, is a rare, inherited metabolic disease that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. The conversion of phenylalanine to tyrosine is defect, phe accumulates and leads to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is co-enzym for the conversion of phe to tyrosine. BH4 can lower phe in some patients with milder forms of PKU. | Product Name: tetrahydrobiopterin | John F. Kennedy Institute | NULL | Not Recruiting | Female: yes Male: yes | Denmark | ||||
| 135 | EUCTR2009-012978-12-NO (EUCTR) | 02/06/2009 | A Phase IV, prospective, open-label, uncontrolled, single-centre cohort trial to be conducted in Norway to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 7 days. - Response to Kuvan® in subjects with PKU from a single centre in Norway | A Phase IV, prospective, open-label, uncontrolled, single-centre cohort trial to be conducted in Norway to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 7 days. - Response to Kuvan® in subjects with PKU from a single centre in Norway | Hyperphenylalaninemia (HPA) in adults and children >=16 years of age with phenylketonuri (PKU) (classic or mild PKU, or mild hyperphenylalaninemia (HPA)). MedDRA version: 9.1;Level: LLT;Classification code 10034872;Term: Phenylketonuria MedDRA version: 9.1;Classification code 10034873;Term: Phenylketonuria (PKU) MedDRA version: 9.1;Level: PT;Classification code 10034871;Term: Phenylalaninemia | Trade Name: Kuvan® (sapropterin dihydrochloride) INN or Proposed INN: sapropterin | Merck Serono, an affiliate of E. Merck AB | NULL | Not Recruiting | Female: yes Male: yes | Phase 4 | Norway | ||||
| 136 | EUCTR2009-018168-81-NO (EUCTR) | 10/03/2010 | ENDURE: A Phase IV, prospective, open-label, uncontrolled, multi-centre cohort trial to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 28 days - ENDURE | ENDURE: A Phase IV, prospective, open-label, uncontrolled, multi-centre cohort trial to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 28 days - ENDURE | Subjects diagnosed with Phenylketonuria (PKU) (classic or mild PKU, or mild hyperphenylalaninaemia (HPA)). MedDRA version: 12.1;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU) | Trade Name: Kuvan INN or Proposed INN: Sapropterindihydrochloride Other descriptive name: SAPROPTERIN HYDROCHLORIDE | Merck Serono Norway | NULL | NA | Female: yes Male: yes | 150 | Phase 4 | Denmark;Norway | |||
| 137 | EUCTR2004-002071-16-IE (EUCTR) | 13/10/2004 | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin hydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 400 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Ireland;Germany;Italy;United Kingdom | |||
| 138 | EUCTR2021-000497-28-DE (EUCTR) | 22/12/2021 | A Phase 3 Extension Study of PTC923 in Subjects with Phenylketonuria | Phase 3 Open-Label Extension Study of PTC923 in Phenylketonuria | Metabolic Disorders - Phenylketonuria MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one | PTC Therapeutics, Inc. | NULL | NA | Female: yes Male: yes | 200 | Phase 3 | United States;Portugal;Spain;Turkey;Italy;United Kingdom;France;Mexico;Canada;Brazil;Australia;Denmark;Georgia;Netherlands;Germany | |||
| 139 | EUCTR2021-000474-29-DE (EUCTR) | 13/09/2021 | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | A Phase 3 Study of PTC923 in Subjects with Phenylketonuria | Metabolic Disorders - Phenylketonuria MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one Product Code: PTC923 INN or Proposed INN: not available Other descriptive name: (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one | PTC Therapeutics, Inc. | NULL | NA | Female: yes Male: yes | 178 | Phase 3 | United States;Portugal;Spain;Turkey;United Kingdom;Italy;France;Mexico;Canada;Brazil;Australia;Denmark;Georgia;Germany;Netherlands | |||
| 140 | EUCTR2021-003777-63-NL (EUCTR) | 24/11/2021 | BH4 (Kuvan©) treatment in Phenylketonuria - comparing different practices of dosing regimens | Tetrahydrobiopterin (BH4) treatment in Phenylketonuria - comparing different practices of dosing regimen - BH4 dose | Phenylketonuria (PKU; OMIM 261600);Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan® (sapropterin dihydrochloride) Product Name: Kuvan® (sapropterin dihydrochloride) Product Code: A16AX07 | University Medical Center Groningen | NULL | NA | Female: yes Male: yes | 28 | Phase 4 | Netherlands | |||
| 141 | EUCTR2004-004512-23-DE (EUCTR) | 17/03/2005 | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1;Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 INN or Proposed INN: Sapropterin, sapropterin hydrochloride | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United Kingdom;Germany;Ireland;Italy | |||
| 142 | EUCTR2018-000648-25-NL (EUCTR) | 13/11/2018 | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management - OPTIC Study | Phenylketonuria (PKU) MedDRA version: 20.0;Level: LLT;Classification code 10034873;Term: Phenylketonuria (PKU);System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE Product Name: Pegvaliase INN or Proposed INN: PEGVALIASE | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 85 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | France;Spain;Turkey;Austria;Germany;Netherlands;Italy | |||
| 143 | EUCTR2015-001650-15-Outside-EU/EEA (EUCTR) | 26/06/2015 | Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria | A Phase III Non-comparative Open-label Clinical Study to Evaluate the Response to and Safety of Kuvan (Sapropterin Dihydrochloride) After 6 Weeks of Treatment in Patients of 4 to 18 Years of Age With Phenylketonuria Who Have Elevated Blood Phenylalanine Levels | Phenylketonuria;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan 100mg soluble tablet Product Name: Sapropterin Dihydrocholoride | Merck Serono Middle East FZ-LLC | NULL | NA | Female: yes Male: yes | 90 | Phase 3 | Ukraine;Russian Federation |