240. フェニルケトン尿症
[臨床試験数:125,薬物数:95(DrugBank:11),標的遺伝子数:1,標的パスウェイ数:5

Searched query = "Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.

Search in Page e.g. "Phase 3", "Not recruiting", "Japan"
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT01465100
(ClinicalTrials.gov)
February 202120/10/2011Liver Cell Transplant for PhenylketonuriaHepatocyte Transplantation for PhenylketonuriaPhenylketonuriaRadiation: Preparative Radiation Therapy;Procedure: Hepatocyte Transplant;Drug: Immunosuppression;Other: Liver Evaluation;Behavioral: Neuro-psychological Assessment;Diagnostic Test: Whole body Phe oxidation testing;Procedure: Liver BiopsyIra FoxNULLRecruiting14 Years55 YearsAll10Phase 1;Phase 2United States
2NCT04256655
(ClinicalTrials.gov)
December 1, 202028/1/2020Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 in PKU PatientsA 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).PhenylketonuriasDrug: cohort 1 0.225g;Drug: Cohort 2 0.75g;Drug: Cohort 3 2.25 gNestléNULLWithdrawn18 Years65 YearsAll0Phase 1NULL
3NCT04375592
(ClinicalTrials.gov)
October 202021/4/2020Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of PhenylketonuriaXPhe Minis - Acceptability and Tolerance Market ResearchPhenylketonurias;Hyperphenylalaninaemia;Tetrahydrobiopterin DeficiencyDietary Supplement: Phenylalanine-free protein substitute in tablet form (XPhe minis)metaX Institut fuer Diatetik GmbHBirmingham Children's HospitalNot yet recruiting7 Years18 YearsAll10NULL
4NCT04480567
(ClinicalTrials.gov)
September 24, 20208/7/2020AAV Gene Therapy Study for Subjects With PKUA 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 PhenylketonuriaPhenylketonuria (PKU)Drug: BMN 307BioMarin PharmaceuticalNULLRecruiting15 YearsN/AAll100Phase 1;Phase 2United States;United Kingdom
5NCT04272736
(ClinicalTrials.gov)
September 1, 202029/8/2018PKU Low Calorie Drink StudyEvaluating the Compliance, Acceptability, Safety and Tolerance of a Lower Calorie Protein Substitute for the Dietary Management of Phenylketonuria in Children and Adults - a Pilot StudyPhenylketonurias;HyperphenylalaninaemiaDietary Supplement: Low calorie protein substituteNutricia UK LtdNULLNot yet recruiting3 YearsN/AAll30N/ANULL
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6NCT04534842
(ClinicalTrials.gov)
August 25, 202024/8/2020Efficacy and Safety of SYNB1618 in Adult Patients With PhenylketonuriaAn Open-label Study of the Efficacy and Safety of SYNB1618 in Patients With Phenylketonuria (SynPheny-1)PhenylketonuriaDrug: SYNB1618SynlogicNULLRecruiting18 YearsN/AAll12Phase 2United States
7NCT04227080
(ClinicalTrials.gov)
June 202010/1/2020BH4 Responsiveness in PAH Deficiency PKU PatientsTo 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 TaiwanPku Phenylketonuria;PAH DeficiencyDrug: BH4Taipei Veterans General Hospital, TaiwanBioMarin PharmaceuticalNot yet recruitingN/AN/AAll40Phase 4NULL
8NCT04302194
(ClinicalTrials.gov)
May 1, 20207/3/2020Early 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.PhenylketonuriasDietary Supplement: phenylalanine restricted dietAssiut UniversityNULLNot yet recruiting1 Month3 YearsAll50NULL
9NCT04110496
(ClinicalTrials.gov)
January 29, 202023/9/2019Safety and Tolerability of RTX-134 in Adults With PhenylketonuriaA Phase 1b Open-Label Single Dose Safety, Tolerability, and Pharmacokinetics Study of RTX-134 in Adults With PhenylketonuriaPhenylketonuriasDrug: RTX-134Rubius TherapeuticsNULLActive, not recruiting18 YearsN/AAll12Phase 1United States
10EUCTR2019-001878-28-GB
(EUCTR)
17/12/201921/11/2019A Phase 1/2 study to evaluate the safety and efficacy of BMN 307 gene therapy in patients with phenylketonuriaA 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 307BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
100Phase 1;Phase 2United States;Taiwan;Spain;Turkey;Australia;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11NCT04404530
(ClinicalTrials.gov)
October 8, 201921/5/2020Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the MetabolomePhenylketonuriasDrug: PalynziqEmory UniversityBioMarin PharmaceuticalRecruiting18 YearsN/AAll45United States
12NCT03924180
(ClinicalTrials.gov)
September 19, 201922/4/2019Glytactin EfficiEncy in Non Treated Adult PHENylketonuria PatientsGlytactin EfficiEncy in Non Treated Adult PHENylketonuria PatientsAdult Phenylketonuria Non Treated PatientsDietary Supplement: Dietary Supplement for PKU patientsUniversity Hospital, ToursINSERM 1415-TOURSRecruiting18 Years75 YearsAll32N/AFrance
13NCT03788343
(ClinicalTrials.gov)
August 19, 201917/12/2018Phenylalanine and Its Impact on CognitionPICO: Phenylalanine and Its Impact on Cognition - Impact of Phenylalanine on Cognitive, Cerebral and Neurometabolic Parameters in Adult Patients With PhenylketonuriaPhenylketonuriaDietary Supplement: Phenylalanine;Drug: PlaceboUniversity Hospital Inselspital, BerneUniversity of ZurichRecruiting18 YearsN/AAll60Phase 4Switzerland
14NCT04014712
(ClinicalTrials.gov)
August 20193/7/2019O2 Transport and Utilization in Health and Lung DiseaseRole of Nitric Oxide Coupling in Muscle Dysfunction With COPDCOPD;Tetrahydrobiopterin Deficiency;Oxidative StressDrug: Tetrahydrobiopterin;Drug: Placebo oral tabletUniversity of Massachusetts, AmherstNULLNot yet recruiting18 Years85 YearsAll30Phase 1United States
15NCT04224142
(ClinicalTrials.gov)
July 29, 20197/10/2019Evaluation of PKU Sphere in Maternal PKUAn Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or PregnancyMaternal PhenylketonuriaDietary Supplement: PKU sphereVitaflo International, LtdUniversity College London HospitalsRecruiting16 YearsN/AFemale10United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
16NCT03939052
(ClinicalTrials.gov)
July 19, 20191/5/2019Protein Requirements in Adults With Phenylketonuria (PKU)Protein Requirements in Phenylketonuria (PKU) Patients Compared Using PKU Sphere™ | Glycomacropeptide (GMP) and an L-amino Acid-based ProductPhenylketonuriaDietary Supplement: Free amino acids intakeUniversity of British ColumbiaVitaflo International, LtdRecruiting19 Years50 YearsAll6N/ACanada
17NCT03333720
(ClinicalTrials.gov)
July 15, 201918/9/2017Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of PhenylketonuriaCompliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of PhenylketonuriaPhenylketonuriasDietary Supplement: Phenylalanine-free protein substitute tabletsNutricia UK LtdNULLWithdrawn8 Years100 YearsAll0N/ANULL
18EUCTR2018-000648-25-FR
(EUCTR)
05/07/201915/10/2018A 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 ManagementA 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]
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
76Phase 3France;Spain;Turkey;Austria;Russian Federation;Netherlands;Germany;Italy
19EUCTR2018-000648-25-DE
(EUCTR)
28/06/201930/08/2018A 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 ManagementA 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]
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
85Phase 3France;Spain;Turkey;Austria;Netherlands;Germany;Italy
20JPRN-JapicCTI-194642
13/6/201925/02/2019A Phase 3 Study to Assess the Safety and Efficacy of BMN 165 in Japanese Adults With PhenylketonuriaA 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 PhenylketonuriaIntervention 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.NULLcomplete1870BOTH10Phase 3Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
21NCT04085666
(ClinicalTrials.gov)
June 1, 20193/8/2019Pharmacodynamics, 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).PhenylketonuriaDrug: CDX 6114;Other: Matching PlaceboNestléNULLCompleted18 Years55 YearsAll18Phase 1Australia;Germany
22NCT03792451
(ClinicalTrials.gov)
January 17, 201931/12/2018Nutrition Status of Adults Treated With PegvaliaseNutrition Status of Adults With Phenylketonuria Treated With PegvaliasePhenylketonuriasDrug: PegvaliaseBoston Children's HospitalBioMarin PharmaceuticalRecruiting18 Years65 YearsAll20United States
23NCT03820804
(ClinicalTrials.gov)
January 7, 201919/10/2018Nutritional Status in PhenylketonuriaTrends in Nutritional Status of Patients With PhenylketonuriaPhenylketonuriasOther: Diet;Drug: SapropterinUniversidade do PortoCentro Hospitalar do Porto;BioMarin PharmaceuticalCompleted3 YearsN/AAll94Portugal
24NCT03771391
(ClinicalTrials.gov)
December 6, 20187/12/2018A 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKUMulticentre 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.PhenylketonuriasDietary Supplement: PKU SphereVitaflo International, LtdKreiskliniken Reutlingen;Universitätsmedizin der Johannes Gutenberg-Universität MainzRecruiting10 YearsN/AAll33N/AGermany
25NCT03694353
(ClinicalTrials.gov)
September 13, 20184/9/2018Study to Evaluate the Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKUAn Open-label Extension Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase (> 40 mg/Day Dose) in Adults With PhenylketonuriaPhenylketonuria (PKU)Drug: PegvaliaseBioMarin PharmaceuticalNULLActive, not recruiting18 Years70 YearsAll37Phase 3United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
26NCT03519711
(ClinicalTrials.gov)
June 24, 201811/4/2018A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With HyperphenylalaninemiaA 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 HyperphenylalaninemiaBH4 Deficiency;HyperphenylalaninemiaDrug: CNSA-001PTC TherapeuticsNULLActive, not recruiting12 MonthsN/AAll6Phase 1;Phase 2United States;Germany
27NCT03419819
(ClinicalTrials.gov)
May 1, 20183/1/2018Evaluation of PKU SphereEvaluation of the Acceptability, Tolerance, and Satiety of PKU Sphere, a Glycomacropeptide (GMP) Based Medical Food in Patients With Phenylketonuria (PKU).PhenylketonuriasDietary Supplement: PKU SphereVitaflo International, LtdOregon Health and Science UniversityCompleted3 YearsN/AAll28N/AUnited States
28NCT03516487
(ClinicalTrials.gov)
April 17, 201811/4/2018Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With PhenylketonuriaA 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 PharmacodynamicsPhenylketonuria;HealthyDrug: SYNB1618;Drug: PlaceboSynlogicNULLCompleted18 Years64 YearsAll70Phase 1;Phase 2United States
29NCT02677870
(ClinicalTrials.gov)
January 201826/1/2016The Effectiveness of Kuvan in Amish PKU PatientsThe Effectiveness of High-Dose Synthetic BH4 (Saproterin Dihydrochloride or Kuvan) in Amish PKU PatientsPhenylketonuriaDrug: saproterin dihydrochloride;Other: Diet treatmentUniversity Hospitals Cleveland Medical CenterBioMarin PharmaceuticalRecruiting2 Years60 YearsAll25Phase 4United States
30NCT03864029
(ClinicalTrials.gov)
October 10, 201722/2/2019Retrospective Observational Safety Effectiveness With Kuvan in hpAAn Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) DeficiencyTetrahydrobiopterin DeficiencyDrug: KUVANBioMarin PharmaceuticalQuintiles, Inc.CompletedN/AN/AAll26China
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
31NCT03168399
(ClinicalTrials.gov)
June 8, 201724/5/2017Evaluation of PKU ExploreA 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 MetabolismDietary Supplement: PKU ExploreVitaflo International, LtdBirmingham Women's and Children's NHS Foundation TrustCompleted6 Months5 YearsAll22N/AUnited Kingdom
32NCT03167697
(ClinicalTrials.gov)
May 1, 201722/5/2017Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or HyperphenylalaninemiaEvaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or HyperphenylalaninemiaPhenylketonurias;Hyperphenylalaninaemia, Type IDietary Supplement: Synergy;Other: RoutineNutricia UK LtdNULLCompleted16 Years100 YearsAll14N/AUnited Kingdom
33NCT03058848
(ClinicalTrials.gov)
March 6, 201716/2/2017Evaluation of PKU StartA 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 MetabolismDietary Supplement: PKU StartVitaflo International, LtdNULLCompletedN/A2 YearsAll10N/AUnited Kingdom
34NCT02915510
(ClinicalTrials.gov)
July 20168/8/2016GMP Drink for PKU StudyEvaluating 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 TrialPhenylketonuriaDietary Supplement: Glycomacropeptide-based protein substituteNutricia UK LtdNULLCompleted3 YearsN/AAll40N/AUnited Kingdom
35NCT02440932
(ClinicalTrials.gov)
November 201430/4/2015Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced ThermogenesisImpact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced ThermogenesisPhenylketonuria (PKU)Dietary Supplement: Phenylketonuria-type diet;Other: Normal (control) dietUniversity of GlasgowNULLCompleted18 Years45 YearsBoth26N/AUnited Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
36EUCTR2010-024311-13-NL
(EUCTR)
13/05/201427/01/2014A 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 KGaANULLNot RecruitingFemale: yes
Male: yes
30Phase 2aFrance;Spain;Belgium;Germany;Netherlands;Italy;Switzerland
37EUCTR2010-021343-41-NL
(EUCTR)
21/03/201430/11/2011Variations of blood phenylalanine and tyrosine in children with phenylketonuria under sapropterinEffect 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: KuvanUniversity Medical Center GroningenNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 4Netherlands
38NCT01977820
(ClinicalTrials.gov)
February 201431/10/2013Sapropterin on Cognitive Abilities in Young Adults With PhenylketonuriaA Multicenter, Double-Blind, Placebo-Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults With PhenylketonuriaPhenylketonuriaDrug: Sapropterin;Drug: PlaceboBioMarin PharmaceuticalNULLTerminated18 Years29 YearsAll2Phase 2Italy;Switzerland;Belgium;Germany;Netherlands;Spain
39EUCTR2010-024311-13-DE
(EUCTR)
02/01/201423/07/2013A 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 KGaANULLNot RecruitingFemale: yes
Male: yes
30Phase 2aFrance;Belgium;Spain;Netherlands;Germany;Italy;Switzerland
40EUCTR2010-024311-13-BE
(EUCTR)
23/12/201325/09/2013A 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 KGaANULLNot RecruitingFemale: yes
Male: yes
30Phase 2aFrance;Spain;Belgium;Netherlands;Germany;Italy;Switzerland
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
41EUCTR2010-024311-13-ES
(EUCTR)
21/11/201301/10/2013A 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 KGaANULLNot RecruitingFemale: yes
Male: yes
30Phase 2aFrance;Belgium;Spain;Netherlands;Germany;Italy;Switzerland
42EUCTR2009-015844-41-ES
(EUCTR)
31/10/201316/01/2014A 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 KGaANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
30Phase 4Spain;Germany;United Kingdom
43NCT01965691
(ClinicalTrials.gov)
October 201316/10/2013Protein Requirements in Children With Phenylketonuria (PKU)Application of Stable Isotopes to Determine Protein Requirements in Children With Phenylketonuria (PKU)PhenylketonuriaDietary Supplement: Protein intakeUniversity of British ColumbiaRare Disease Foundation, Vancouver, Canada;Saudi Arabian Cultural Bureau, OttawaCompleted5 Years18 YearsAll4N/ACanada
44NCT01965912
(ClinicalTrials.gov)
October 201316/10/2013Kuvan®'s Effect on the Cognition of Children With PhenylketonuriaA 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 YearsPhenylketonuriaDrug: Kuvan®BioMarin PharmaceuticalNULLActive, not recruiting4 Years5 YearsAll34Phase 4Germany;Italy;Spain;United Kingdom
45EUCTR2010-024311-13-IT
(EUCTR)
21/09/201326/07/2013A 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 KGaANULLNot RecruitingFemale: yes
Male: yes
30Phase 2aFrance;Belgium;Spain;Netherlands;Germany;Switzerland;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
46EUCTR2009-015844-41-DE
(EUCTR)
10/09/201313/06/2013A 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]
BioMarin International Ltd.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
60Phase 4Spain;Germany;Italy;United Kingdom
47EUCTR2009-015844-41-IT
(EUCTR)
02/09/201325/06/2013A 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 KGaANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
30Phase 4Spain;Germany;United Kingdom;Italy
48NCT01889862
(ClinicalTrials.gov)
July 29, 201318/6/2013Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKUA 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: PlaceboBioMarin PharmaceuticalNULLCompleted18 Years70 YearsAll215Phase 3United States
49EUCTR2009-015844-41-GB
(EUCTR)
25/07/201313/06/2013A 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.NULLNot RecruitingFemale: yes
Male: yes
30Phase 4Spain;Germany;Italy;United Kingdom
50NCT01819727
(ClinicalTrials.gov)
May 201318/3/2013An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165A 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 165PhenylketonuriaDrug: BMN 165BioMarin PharmaceuticalNULLCompleted18 Years70 YearsAll261Phase 3United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
51NCT01806051
(ClinicalTrials.gov)
March 20134/3/2013A Pilot Study on Diurnal VariationA Pilot Study on the Diurnal Variation in PKU Patients With KuvanPhenylketonuria (PKU)Drug: KuvanDr. Linda RandolphBioMarin PharmaceuticalTerminated4 YearsN/AAll6N/AUnited States
52NCT01732471
(ClinicalTrials.gov)
November 201219/11/2012Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With PhenylketonuriaA 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 LevelsPhenylketonuriaDrug: Kuvan®Merck KGaANULLCompleted4 Years18 YearsAll90Phase 3Germany
53NCT01560286
(ClinicalTrials.gov)
May 20125/3/2012A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 WeeksA 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 WeeksPhenylketonuriaBiological: BMN 165 (rAvPAL-PEG)BioMarin PharmaceuticalNULLCompleted16 Years70 YearsAll24Phase 2United States
54NCT01617070
(ClinicalTrials.gov)
May 20128/6/2012Effects of Kuvan on Melatonin SecretionPilot Study to Evaluate Melatonin Secretion as a Marker of Decreased Serotonin in Individuals With PKU: Evaluation of the CNS Effects of TetrahydrobiopterinPhenylketonuria (PKU)Drug: Kuvan;Dietary Supplement: Large Neutral Amino Acid TherapyUniversity of Southern CaliforniaBioMarin PharmaceuticalCompleted18 YearsN/AAll10Phase 4United States
55NCT01376908
(ClinicalTrials.gov)
June 201117/6/2011Kuvan® in Phenylketonuria Patients Less Than 4 Years OldA 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.PhenylketonuriaDrug: Kuvan®;Other: Phenylalanine (Phe)-restricted dietBioMarin PharmaceuticalNULLCompletedN/A4 YearsAll56Phase 3Austria;Belgium;Czechia;Germany;Italy;Netherlands;Slovakia;Turkey;United Kingdom;Czech Republic;Portugal
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
56NCT01541397
(ClinicalTrials.gov)
June 201111/7/2011Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan TherapyBone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan TherapyHyperphenylalaninemia;PhenylketonuriaDrug: SapropterinThe University of Texas Health Science Center, HoustonBioMarin PharmaceuticalTerminated18 Years50 YearsAll6N/AUnited States
57NCT01395394
(ClinicalTrials.gov)
June 201123/6/2011Phenylketonuria, Oxidative Stress, and BH4The Ability of Kuvan® (Sapropterin Dihydrochloride) to Prevent Meal-induced Lipid Peroxidation and Endothelial Dysfunction in Patients With Phenylketonuria: a Pilot StudyPhenylketonuriaDrug: Kuvan;Other: Meal ChallengeEmory UniversityNULLTerminated10 Years45 YearsAll12Phase 2United States
58EUCTR2009-015768-33-DE
(EUCTR)
20/05/201104/11/2010Safety 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 LtdNULLNot RecruitingFemale: yes
Male: yes
56Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom
59EUCTR2009-015768-33-PT
(EUCTR)
13/05/201116/12/2010Safety 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. - GenevaNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
50Phase 3bPortugal;Czech Republic;Germany;Slovakia;United Kingdom;Turkey;Netherlands;Belgium;Italy;Austria
60EUCTR2009-015768-33-NL
(EUCTR)
03/05/201114/02/2011Safety 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. - GenevaNULLNot RecruitingFemale: yes
Male: yes
50Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Germany;Netherlands;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
61NCT01412437
(ClinicalTrials.gov)
April 20111/8/2011Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in PhenylketonuriaMultimodal Neuroimaging and Neurocognitive Assessment of Biomarkers and Response to Sapropterin Dihydrochloride Treatment in PhenylketonuriaPKUDietary Supplement: diet;Drug: sapropterin dihydrochlorideChildren's Research InstituteGeorgetown UniversityWithdrawn18 Years40 YearsBoth0N/AUnited States
62EUCTR2009-015768-33-IT
(EUCTR)
15/03/201128/12/2011SPARK (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 SANULLNot RecruitingFemale: yes
Male: yes
50Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;United Kingdom;Italy
63NCT01212744
(ClinicalTrials.gov)
March 201129/9/2010Safety, 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 PhenylketonuriaPhenylketonuriaDrug: rAvPAL-PEGBioMarin PharmaceuticalNULLCompleted16 Years70 YearsAll16Phase 2United States
64EUCTR2009-015768-33-BE
(EUCTR)
16/02/201119/01/2011Safety 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 LtdNULLNot RecruitingFemale: yes
Male: yes
50Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom
65EUCTR2009-015768-33-SK
(EUCTR)
10/02/201103/11/2010Safety 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 LtdNULLNot RecruitingFemale: yes
Male: yes
50Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
66EUCTR2009-015768-33-AT
(EUCTR)
05/01/201125/11/2010Safety 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 LtdNULLNot RecruitingFemale: yes
Male: yes
54Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom
67EUCTR2009-015768-33-GB
(EUCTR)
04/01/201111/10/2010Safety 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]
BioMarin International Ltd.NULLNot Recruiting Female: yes
Male: yes
56Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom
68NCT01274026
(ClinicalTrials.gov)
January 201110/1/2011Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan NonrespondersEvaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression in PKU Nonresponders to Kuvan® (Sapropterin Dihydrochloride)Phenylketonuria;Behavior and Behavior Mechanisms;PAH Gene ExpressionDrug: sapropterin dihydrochlorideTulane University School of MedicineBioMarin PharmaceuticalCompleted2 YearsN/AAll21United States
69EUCTR2009-015768-33-CZ
(EUCTR)
15/12/201010/12/2010Safety 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 LtdNULLNot RecruitingFemale: yes
Male: yes
56Phase 3Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom
70EUCTR2010-019767-11-AT
(EUCTR)
08/09/201010/08/2010Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1Ö-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: KuvanGraz Medical UniversityNULLNot RecruitingFemale: yes
Male: yes
Austria
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
71NCT01114737
(ClinicalTrials.gov)
August 201027/4/2010Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) PatientsA Double-blind, Placebo-controlled, Randomized Study to Evaluate the Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Subjects With PhenylketonuriaPhenylketonuriaDrug: Sapropterin dihydrochloride;Drug: PlaceboBioMarin PharmaceuticalNULLCompleted8 Years65 YearsAll206Phase 3United States;Canada
72NCT01082328
(ClinicalTrials.gov)
May 20105/3/2010Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing PeriodENDURE: 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 DaysPhenylketonuriaDrug: Kuvan®Merck KGaAMerck Serono Norway;Smerud Medical Research International ASCompleted4 YearsN/AAll59Phase 4Norway
73EUCTR2009-018168-81-DK
(EUCTR)
16/04/201003/03/2010ENDURE: 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 - ENDUREENDURE: 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 NorwayNULLNot RecruitingFemale: yes
Male: yes
70Phase 4Denmark
74NCT00986973
(ClinicalTrials.gov)
March 201028/9/2009Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN TherapyA Pilot Study of FDG PET Findings in Patients With Phenylketonuria Before and After BH4 SupplementationPhenylketonuriaDrug: SapropterinChildren's Hospital of PhiladelphiaNULLCompleted18 Years50 YearsAll6N/AUnited States
75NCT00924703
(ClinicalTrials.gov)
October 8, 200918/6/2009Long-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 PKUPhenylketonuriaDrug: rAvPAL-PEGBioMarin PharmaceuticalNULLCompleted16 Years55 YearsAll68Phase 2United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
76NCT00925054
(ClinicalTrials.gov)
September 200917/6/2009Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKUPhase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous (SC) Doses of rAvPAL-PEG in Subjects With PKUPhenylketonuriaDrug: 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/kgBioMarin PharmaceuticalNULLCompleted16 Years55 YearsAll40Phase 2United States
77NCT00964236
(ClinicalTrials.gov)
August 200921/8/2009The 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)PhenylketonuriaDrug: SapropterinUniversity of Missouri-ColumbiaBioMarin PharmaceuticalCompleted6 YearsN/AAll20United States
78NCT00909012
(ClinicalTrials.gov)
May 200922/4/2009Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With PhenylketonuriaQuantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With PhenylketonuriaPhenylketonuriaDietary Supplement: high oleic sunflower oil;Dietary Supplement: microalgal oilLudwig-Maximilians - University of MunichEuropean UnionCompleted5 Years13 YearsAll114N/AGermany;Italy;Spain;United Kingdom
79NCT00838435
(ClinicalTrials.gov)
February 20095/2/2009Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKUA 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 PhenylketonuriaPhenylketonuriaDrug: sapropterin dihydrochlorideBioMarin PharmaceuticalNULLCompletedN/A6 YearsAll95Phase 3United States;Canada
80NCT00827762
(ClinicalTrials.gov)
January 200921/1/2009Behavioral Effects of Kuvan in Children With Mild PhenylketonuriaBehavioral Effects of Kuvan in Children With Mild PhenylketonuriaPhenylketonuriaDrug: KuvanWashington University School of MedicineBioMarin Pharmaceutical;University of Missouri-Columbia;Northwestern University;Oregon Health and Science UniversityTerminated6 Years18 YearsBoth2N/AUnited States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
81NCT00841100
(ClinicalTrials.gov)
December 200810/2/2009Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan ResponseKuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan ResponsePhenylketonuriaDrug: Kuvan;Other: DietUniversity of MiamiNULLCompleted4 YearsN/AAll21Phase 2United States
82NCT00688844
(ClinicalTrials.gov)
October 200829/5/2008Nutritional and Neurotransmitter Changes in PKU Subjects on BH4Baseline Evaluation and Long-term Follow-up of Nutritional Status and Neurotransmitter Concentrations in Phenylketonuria Patients Initiating Treatment With Sapropterin Dihydrochloride (KuvanTM), a Tetrahydrobiopterin Analog.PhenylketonuriaDrug: KuvanTM TherapyEmory UniversityBioMarin Pharmaceutical;Atlanta Clinical and Translational Science InstituteCompleted4 YearsN/AAll58N/AUnited States
83NCT00789568
(ClinicalTrials.gov)
October 200810/11/2008A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult SubjectsA Phase 1, Randomized, Placebo- and Active-controlled Crossover Study to Evaluate the Effects of Sapropterin Dihydrochloride Oral Administration on QTc Intervals in Healthy Adult SubjectsPhenylketonuriaDrug: sapropterin dihydrochloride;Drug: MoxifloxacinBioMarin PharmaceuticalNULLCompleted18 Years50 YearsBoth56Phase 1United States
84NCT00778206
(ClinicalTrials.gov)
September 200821/10/2008PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety RegistryPKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety RegistryPhenylketonuria;HyperphenylalaninaemiaDrug: KuvanBioMarin PharmaceuticalNULLActive, not recruitingN/AN/AAll1927United States;Puerto Rico
85NCT00730080
(ClinicalTrials.gov)
July 20081/8/2008Sapropterin in Individuals With PhenylketonuriaEffects of Sapropterin on Brain and Cognition in Individuals With PhenylketonuriaPhenylketonuriaDrug: Sapropterin (Kuvan)Washington University School of MedicineBioMarin Pharmaceutical;University of Missouri-ColumbiaCompleted6 Years50 YearsAll45United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
86NCT00634660
(ClinicalTrials.gov)
May 20086/3/2008Safety and Tolerability Study of rAvPAL-PEG to Treat PhenylketonuriaA Phase I, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single, Subcutaneous Doses of rAvPAL-PEG in Subjects With PhenylketonuriaPhenylketonuriaDrug: rAvPAL-PEGBioMarin PharmaceuticalNULLCompleted16 Years50 YearsAll25Phase 1United States
87NCT00892554
(ClinicalTrials.gov)
June 20071/5/2009The 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 PhenylketonuriaPhenylketonuriaDietary Supplement: Docosahexaenoic Acid;Dietary Supplement: Corn/soy oilEmory UniversityAtlanta Clinical and Translational Science InstituteCompleted12 Years50 YearsFemale33N/AUnited States
88NCT00432822
(ClinicalTrials.gov)
February 20077/2/2007Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and SafetyDouble-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 DeficiencyPhenylalanine Hydroxylase DeficienciesDrug: tetrahydrobiopterin (BH4)Orphanetics Pharma Entwicklungs GmbHNULLTerminatedN/A18 YearsBoth50Phase 2;Phase 3NULL
89NCT00484991
(ClinicalTrials.gov)
February 20078/6/2007Sapropterin Expanded Access ProgramSapropterin Expanded Access ProgramPhenylketonuriaDrug: Sapropterin dihydrochlorideBioMarin PharmaceuticalNULLApproved for marketing9 YearsN/ABothN/AUnited States
90EUCTR2006-000839-10-ES
(EUCTR)
06/10/200613/07/2006A 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-006A 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.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
128Phase 3bUnited Kingdom;Germany;Ireland;Spain;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
91EUCTR2006-000839-10-IT
(EUCTR)
07/09/200602/08/2007A Phase 3b, Multicenter, Open?Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Studies PKU?004 or PKU?006 - NDA 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
BIOMARINNULLNot RecruitingFemale: yes
Male: yes
128Phase 3bUnited Kingdom;Germany;Spain;Ireland;Italy
92EUCTR2006-000839-10-IE
(EUCTR)
02/09/200612/06/2006A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NAA 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.NULLNot RecruitingFemale: yes
Male: yes
128Phase 3bUnited Kingdom;Germany;Spain;Ireland;Italy
93EUCTR2005-003777-24-GB
(EUCTR)
17/08/200620/04/2006A 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 - NAA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
300Phase 3Spain;Germany;United Kingdom
94EUCTR2006-000839-10-GB
(EUCTR)
14/08/200620/09/2006A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NAA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
128Phase 3Spain;Ireland;Germany;Italy;United Kingdom
95EUCTR2006-000839-10-DE
(EUCTR)
09/08/200626/05/2006A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NAA 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.NULLNot RecruitingFemale: yes
Male: yes
128Phase 3bUnited Kingdom;Germany;Spain;Ireland;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
96NCT00355264
(ClinicalTrials.gov)
August 200619/7/2006Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 DeficiencyPhase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 DeficiencyTetrahydrobiopterin Deficiencies;Hyperphenylalaninemia, Non-PhenylketonuricDrug: PhenoptinBioMarin PharmaceuticalNULLCompletedN/AN/AAll12Phase 2United States;Germany
97EUCTR2005-003778-13-DE
(EUCTR)
13/07/200614/06/2006A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 DeficiencyA 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 IncNULLNot RecruitingFemale: yes
Male: yes
15Phase 2Germany
98NCT00332189
(ClinicalTrials.gov)
July 200630/5/2006Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006PhenylketonuriaDrug: sapropterin dihydrochlorideBioMarin PharmaceuticalNULLCompleted4 YearsN/AAll111Phase 3United States
99EUCTR2006-000648-15-AT
(EUCTR)
08/06/200605/04/2006A 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 deficiencyA 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- GmbHNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
75Austria
100EUCTR2005-003777-24-DE
(EUCTR)
24/03/200614/12/2005A 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 - NAA 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.NULLNot RecruitingFemale: yes
Male: yes
300Phase 3Germany;Spain
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
101EUCTR2005-003777-24-ES
(EUCTR)
01/03/200619/01/2006Estudio 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.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
300Germany;Spain
102NCT00225615
(ClinicalTrials.gov)
November 200522/9/2005A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine LevelsA Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Have Elevated Phenylalanine LevelsPhenylketonuriasDrug: sapropterin dihydrochlorideBioMarin PharmaceuticalNULLCompleted8 YearsN/ABoth100Phase 3United States
103EUCTR2004-004513-41-DE
(EUCTR)
27/10/200512/05/2006A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine LevelsA 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.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3Ireland;Germany;Italy;United Kingdom
104EUCTR2004-004513-41-GB
(EUCTR)
25/10/200502/06/2005A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine LevelsA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
100Phase 3Ireland;Germany;Italy;United Kingdom
105EUCTR2004-004513-41-IT
(EUCTR)
23/09/200511/11/2005A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine LevelsA 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: PhenoptinBIOMARINNULLNot RecruitingFemale: yes
Male: yes
50Phase 3Germany;United Kingdom;Ireland;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
106EUCTR2004-004513-41-IE
(EUCTR)
19/08/200510/06/2005A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine LevelsA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
100Phase 3Ireland;Germany;Italy;United Kingdom
107EUCTR2004-004512-23-GB
(EUCTR)
15/08/200523/02/2005A 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 - NAA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
100Phase 3Ireland;Germany;Italy;United Kingdom
108EUCTR2004-004512-23-IT
(EUCTR)
09/06/200522/06/2005A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine LevelsA 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: PhenoptinBIOMARINNULLNot RecruitingFemale: yes
Male: yes
100Phase 3Germany;United Kingdom;Ireland;Italy
109EUCTR2004-004512-23-IE
(EUCTR)
22/05/200515/02/2005A 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 - NAA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
100Phase 3Ireland;Germany;Italy;United Kingdom
110NCT00244218
(ClinicalTrials.gov)
April 200525/10/2005Response to Phenylketonuria to Tetrahydrobiopterin (BH4)Response to Phenylketonuria to Tetrahydrobiopterin (BH4)PhenylketonuriaDrug: tetrahydrobiopterin (BH4)FDA Office of Orphan Products DevelopmentNULLRecruiting10 YearsN/ABoth36Phase 1United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
111NCT00260000
(ClinicalTrials.gov)
April 200530/11/2005Study of BH4, a New and Simple Treatment of Mild PKUStudy of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C MutationPhenylketonuriaDrug: 5,6,7,8-tetrahydrobiopterinThe Kennedy Institute-National Eye ClinicSygekassernes HelsefondCompleted8 YearsN/ABoth15Phase 2Denmark
112EUCTR2004-002071-16-GB
(EUCTR)
18/03/200522/02/2005A 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 - NAA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
700Phase 2Ireland;Germany;Italy;United Kingdom
113EUCTR2004-002071-16-IT
(EUCTR)
17/03/200527/04/2005A 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 LevelsA 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
BIOMARINNULLNot RecruitingFemale: yes
Male: yes
Phase 2United Kingdom;Germany;Italy
114NCT00104247
(ClinicalTrials.gov)
March 200524/2/2005Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine LevelsA Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine LevelsPhenylketonuriasDrug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterinBioMarin PharmaceuticalNULLCompleted8 YearsN/AAll89Phase 3United States
115EUCTR2004-002071-16-DE
(EUCTR)
28/01/200514/10/2004A 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 - NAA 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.NULLNot RecruitingFemale: yes
Male: yes
700Phase 2United Kingdom;Germany;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
116NCT00104260
(ClinicalTrials.gov)
December 200424/2/2005Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With PhenylketonuriaA 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 LevelsPhenylketonuriasDrug: sapropterin dihydrochlorideBioMarin PharmaceuticalNULLCompleted8 YearsN/ABoth700Phase 2United States
117EUCTR2004-002365-21-DK
(EUCTR)
03/11/200409/07/2008Trial with BH4, a new and simple treatment of phenylketonuria, PKU - BH4 and PKUTrial 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: tetrahydrobiopterinJohn F. Kennedy InstituteNULLNot RecruitingFemale: yes
Male: yes
Denmark
118NCT00065299
(ClinicalTrials.gov)
May 198421/7/2003Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)Effects of Maternal Phenylketonuria (PKU) on Pregnancy OutcomePhenylketonuriaBehavioral: Restricted phenylalanine dietEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)NULLCompletedN/AN/AFemale572N/AUnited States
119NCT00006142
(ClinicalTrials.gov)
December 19833/8/2000Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With PhenylketonuriaPhenylketonuriaBehavioral: phenylalanine restricted dietNational Center for Research Resources (NCRR)University of TexasCompletedN/AN/AFemaleN/ANULL
120EUCTR2004-002071-16-IE
(EUCTR)
13/10/2004A 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 - NAA 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
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
400Phase 2Ireland;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
121EUCTR2009-018168-81-NO
(EUCTR)
10/03/2010ENDURE: 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 - ENDUREENDURE: 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 NorwayNULLNAFemale: yes
Male: yes
150Phase 4Denmark;Norway
122EUCTR2009-012978-12-NO
(EUCTR)
02/06/2009A 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 NorwayA 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 ABNULLNot RecruitingFemale: yes
Male: yes
Phase 4Norway
123EUCTR2015-001650-15-Outside-EU/EEA
(EUCTR)
26/06/2015Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With PhenylketonuriaA 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-LLCNULLNAFemale: yes
Male: yes
90Phase 3Ukraine;Russian Federation
124EUCTR2018-000648-25-NL
(EUCTR)
13/11/2018A 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 ManagementA 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]
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
85Phase 3France;Spain;Turkey;Austria;Germany;Netherlands;Italy
125EUCTR2004-004512-23-DE
(EUCTR)
17/03/2005A 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 - NAA 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.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United Kingdom;Germany;Ireland;Italy