240. Phenylketonuria
125 clinical trials, 95 drugs (DrugBank: 11 drugs), 1 drug target gene, 5 drug target pathways
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.
| 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 | NCT04375592 (ClinicalTrials.gov) | October 2020 | 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 | Not yet recruiting | 7 Years | 18 Years | All | 10 | NULL | |
| 2 | NCT04272736 (ClinicalTrials.gov) | September 1, 2020 | 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 | 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 | |
| 4 | 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 | 18 Years | N/A | All | 45 | United States | |
| 5 | NCT03924180 (ClinicalTrials.gov) | September 19, 2019 | 22/4/2019 | Glytactin EfficiEncy in Non Treated Adult PHENylketonuria Patients | Glytactin EfficiEncy in Non Treated Adult PHENylketonuria Patients | Adult Phenylketonuria Non Treated Patients | Dietary Supplement: Dietary Supplement for PKU patients | University Hospital, Tours | INSERM 1415-TOURS | Recruiting | 18 Years | 75 Years | All | 32 | N/A | France |
| 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 |
| 6 | 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 | Recruiting | 18 Years | N/A | All | 60 | Phase 4 | Switzerland |
| 7 | 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 | |
| 8 | 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 |
| 9 | 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 |
| 10 | 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 | |
| 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 |
| 11 | 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;Universitätsmedizin der Johannes Gutenberg-Universität Mainz | Recruiting | 10 Years | N/A | All | 33 | N/A | Germany |
| 12 | 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 |
| 13 | NCT02677870 (ClinicalTrials.gov) | January 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 | Recruiting | 2 Years | 60 Years | All | 25 | Phase 4 | United States |
| 14 | 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 |
| 15 | 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 |
| 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 |
| 16 | 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 |
| 17 | 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 |
| 18 | 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 |
| 19 | 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 | |||
| 20 | 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 |
| 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 |
| 21 | 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 |
| 22 | 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 |
| 23 | NCT00909012 (ClinicalTrials.gov) | May 2009 | 22/4/2009 | Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria | Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria | Phenylketonuria | Dietary Supplement: high oleic sunflower oil;Dietary Supplement: microalgal oil | Ludwig-Maximilians - University of Munich | European Union | Completed | 5 Years | 13 Years | All | 114 | N/A | Germany;Italy;Spain;United Kingdom |
| 24 | 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 |
| 25 | 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 |
| 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 |
| 26 | 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 | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 300 | Phase 3 | Spain;Germany;United Kingdom | |||
| 27 | 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 | ||
| 28 | 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 | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 300 | Germany;Spain | |||
| 29 | 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 | ||||
| 30 | NCT00065299 (ClinicalTrials.gov) | May 1984 | 21/7/2003 | Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) | Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome | Phenylketonuria | Behavioral: Restricted phenylalanine diet | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | NULL | Completed | N/A | N/A | Female | 572 | N/A | United States |
| 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 |
| 31 | NCT00006142 (ClinicalTrials.gov) | December 1983 | 3/8/2000 | Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria | Phenylketonuria | Behavioral: phenylalanine restricted diet | National Center for Research Resources (NCRR) | University of Texas | Completed | N/A | N/A | Female | N/A | NULL |