240. フェニルケトン尿症 ［臨床試験数：78，薬物数：53（DrugBank：8），標的遺伝子数：0，標的パスウェイ数：0］
Searched query = "Phenylketonuria", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"
The queries were searched in Public_title, Scientific_title, and Condition of the data. Export date: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT04110496 | September 28, 2019 | 14 October 2019 | Safety and Tolerability of RTX-134 in Adults With Phenylketonuria | A Phase 1b Open-Label Single Dose Safety, Tolerability, and Pharmacokinetics Study of RTX-134 in Adults With Phenylketonuria | Phenylketonurias | Drug: RTX-134 | Rubius Therapeutics | Recruiting | 18 Years | N/A | All | 12 | Phase 1 | United States | |
| 2 | NCT03924180 | September 19, 2019 | 30 September 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 |
| 3 | NCT01465100 | September 2019 | 26 August 2019 | Liver Cell Transplant for Phenylketonuria | Hepatocyte Transplantation for Phenylketonuria | Phenylketonuria | Radiation: Preparative Radiation Therapy;Procedure: Hepatocyte Transplant;Drug: Immunosuppression;Other: Liver Evaluation;Behavioral: Neuro-psychological Assessment;Diagnostic Test: Whole body Phe oxidation testing;Procedure: Liver Biopsy | Ira Fox | Recruiting | 14 Years | 55 Years | All | 10 | Phase 1/Phase 2 | United States | |
| 4 | NCT03788343 | August 19, 2019 | 16 September 2019 | 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 |
| 5 | NCT04014712 | August 2019 | 22 July 2019 | O2 Transport and Utilization in Health and Lung Disease | Role of Nitric Oxide Coupling in Muscle Dysfunction With COPD | COPD;Tetrahydrobiopterin Deficiency;Oxidative Stress | Drug: Tetrahydrobiopterin;Drug: Placebo oral tablet | University of Massachusetts, Amherst | Not recruiting | 18 Years | 85 Years | All | 30 | Phase 1 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT03939052 | July 19, 2019 | 2 September 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 |
| 7 | NCT03333720 | July 15, 2019 | 25 March 2019 | 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 | Not recruiting | 8 Years | 100 Years | All | 0 | N/A | ||
| 8 | NCT04085666 | June 1, 2019 | 30 September 2019 | Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU) | A Phase 1, Multi-center, Randomized, Double-blind, Placebo-controlled, Cross-over Study to Evaluate the Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of a Single Oral Dose of CDX-6114 in Patients With Phenylketonuria (PKU). | Phenylketonuria | Drug: CDX 6114;Other: Matching Placebo | Nestlé | Recruiting | 18 Years | 55 Years | All | 20 | Phase 1 | Australia;Germany | |
| 9 | JPRN-JapicCTI-194642 | 17/4/2019 | 16 July 2019 | A Phase 3 Study to Assess the Safety and Efficacy of BMN 165 in Japanese Subjects With Phenylketonuria | A Phase 3, Open-Label, Multi-Center Study to Assess the Safety and Efficacy of BMN 165 in Japanese Subjects 18 Years of Age and Older With Phenylketonuria | Phenylketonuria | Intervention name : BMN 165 INN of the intervention : pegvaliase Dosage And administration of the intervention : BMN 165 will be administered SC at dose levels of 2.5 to 60 mg. The minimum dose is a single weekly dose of 2.5 mg (for a total weekly dose of 2.5 mg). The maximum allowable daily dose is 40 mg/day (for a maximum weekly dose of 280 mg) during Part 1. Subjects may increase dose up to 60 mg/day in Part 2 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 Pharmaceuticals Inc./CMIC Co., Ltd. | Recruiting | 18 | 70 | BOTH | 10 | Phase 3 | Japan | |
| 10 | NCT03792451 | January 17, 2019 | 26 August 2019 | Nutrition Status of Adults Treated With Pegvaliase | Nutrition Status of Adults With Phenylketonuria Treated With Pegvaliase | Phenylketonurias | Drug: Pegvaliase | Boston Children’s Hospital | BioMarin Pharmaceutical | Recruiting | 18 Years | 65 Years | All | 20 | Phase 1 | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 11 | NCT03820804 | January 7, 2019 | 30 September 2019 | 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 | Not recruiting | 3 Years | N/A | All | 94 | Phase 3 | Portugal |
| 12 | NCT03771391 | December 6, 2018 | 18 December 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 |
| 13 | NCT03694353 | September 13, 2018 | 25 March 2019 | Study to Evaluate the Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU | An Open-label Extension Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase (> 40 mg/Day Dose) in Adults With Phenylketonuria | Phenylketonuria (PKU) | Drug: Pegvaliase | BioMarin Pharmaceutical | Not recruiting | 18 Years | 70 Years | All | 37 | Phase 3 | United States | |
| 14 | NCT03519711 | June 24, 2018 | 26 August 2019 | A Study of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia | A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate Safety, PK and Preliminary Efficacy of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia | BH4 Deficiency;Hyperphenylalaninemia, Non-Phenylketonuric | Drug: CNSA-001 | Censa Pharmaceuticals, Inc. | Recruiting | 12 Years | N/A | All | 6 | Phase 1/Phase 2 | United States;Germany | |
| 15 | NCT03419819 | May 1, 2018 | 17 June 2019 | 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 | Not recruiting | 3 Years | N/A | All | 28 | N/A | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 16 | NCT03516487 | April 2, 2018 | 26 August 2019 | Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria | A Phase 1/2a, First-in-human, Oral Single and Multiple Dose-Escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria to Evaluate Safety, Tolerability, Kinetics, and Pharmacodynamics | Phenylketonuria;Healthy | Drug: SYNB1618;Drug: Placebo | Synlogic | Not recruiting | 18 Years | 64 Years | All | 70 | Phase 1/Phase 2 | United States | |
| 17 | NCT02677870 | January 2018 | 16 December 2017 | 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 |
| 18 | EUCTR2018-000648-25-NL | 19 November 2018 | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management | A Phase 3b, Open-Label, Single Arm, Multi-Centre Study to Assess the Safety and Efficacy of Pegvaliase (BMN 165) Treatment in adults With Phenylketonuria Not Controlled With Current Management - OPTIC Study | Phenylketonuria (PKU) MedDRA version: 20.0 Level: LLT Classification code 10034873 Term: Phenylketonuria (PKU) System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Pegvaliase Pharmaceutical Form: Solution for injection INN or Proposed INN: PEGVALIASE CAS Number: 1585984-95-7 Current Sponsor code: pegvaliase, rAvPAL-PEG, PEG-PAL, PAL-PEG Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 2.5- Product Name: Pegvaliase Pharmaceutical Form: Solution for injection INN or Proposed INN: PEGVALIASE CAS Number: 1585984-95-7 Current Sponsor code: pegvaliase, rAvPAL-PEG, PEG-PAL, PAL-PEG Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 10- Product Name: Pegvaliase Pharmaceutical Form: Solution for injection INN or Proposed INN: PEGVALIASE CAS Number: 1585984-95-7 Current Sponsor code: pegvaliase, rAvPAL-PEG, PEG-PAL, PAL-PEG Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 20- | BioMarin Pharmaceutical Inc. | Not Available | Female: yes Male: yes | 85 | Phase 3 | France;Spain;Turkey;Austria;Germany;Netherlands;Italy | ||||
| 19 | NCT03864029 | October 10, 2017 | 18 March 2019 | Retrospective Observational Safety Effectiveness With Kuvan in hpA | An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency | Tetrahydrobiopterin Deficiency | Drug: KUVAN | BioMarin Pharmaceutical | Quintiles, Inc. | Not recruiting | N/A | N/A | All | 26 | N/A | China |
| 20 | NCT03168399 | June 8, 2017 | 11 June 2018 | 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 | Not recruiting | 6 Months | 5 Years | All | 22 | N/A | United Kingdom |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 21 | NCT03167697 | May 1, 2017 | 25 March 2019 | 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 | Not recruiting | 16 Years | 100 Years | All | 14 | N/A | United Kingdom | |
| 22 | NCT03058848 | March 6, 2017 | 16 December 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 | Not recruiting | N/A | 2 Years | All | 10 | N/A | United Kingdom | |
| 23 | NCT02915510 | July 2016 | 14 October 2019 | 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 | Not recruiting | 3 Years | N/A | All | 40 | N/A | United Kingdom | |
| 24 | NCT02440932 | November 2014 | 30 May 2016 | 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 | Not recruiting | 18 Years | 45 Years | Both | 26 | N/A | United Kingdom | |
| 25 | EUCTR2010-021343-41-NL | 21/03/2014 | 31 October 2016 | 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 Pharmaceutical Form: Soluble tablet | University Medical Center Groningen | Authorised | Female: yes Male: yes | Phase 4 | Netherlands | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 26 | EUCTR2010-024311-13-DE | 02/01/2014 | 26 October 2015 | A clinical study, carried out in different centers and using a placebo, to assess the effect of a medicinal product, containing sapropterin as the active substance, on mental abilities in young adults suffering from phenylketonuria, a genetic disease in which an enzyme defect leads to accumulation of a waste product (phenylketone) which can be detected in urine. | A Multicenter, Double-Blind, Placebo Controlled, Randomized, 2-Arm Phase IIa Pilot Trial Assessing the Effect of Sapropterin on Cognitive Abilities in Young Adults with Phenylketonuria - SIGNAL (SapropterIn on coGnitive abilities in youNg Adults with phenyLketonuria) | Phenylketonuria MedDRA version: 16.0 Level: LLT Classification code 10034873 Term: Phenylketonuria (PKU) System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan® Pharmaceutical Form: Coated tablet INN or Proposed INN: Sapropterin CAS Number: 62989-33-7 Other descriptive name: SAPROPTERIN DIHYDROCHLORIDE Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- Pharmaceutical form of the placebo: Coated tablet Route of administration of the placebo: Oral use | Merck KGaA | Not Recruiting | Female: yes Male: yes | 30 | Phase 2a | France;Belgium;Spain;Netherlands;Germany;Italy;Switzerland | |||
| 27 | NCT01965691 | October 2013 | 13 June 2016 | 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;Royal Embassy of Saudi Arabia-Cultural Bureau Ottawa | Not recruiting | 5 Years | 18 Years | Both | 4 | N/A | Canada |
| 28 | NCT01965912 | October 2013 | 5 February 2018 | Kuvan®'s Effect on the Cognition of Children With Phenylketonuria | A Phase 4 Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-Old Children With Phenylketonuria Treated With Sapropterin Dihydrochloride (Kuvan®) for 7 Years | Phenylketonuria | Drug: Kuvan® | BioMarin Pharmaceutical | Not recruiting | 4 Years | 5 Years | All | 34 | Phase 4 | Germany;Italy;Spain;United Kingdom | |
| 29 | EUCTR2009-015844-41-DE | 10/09/2013 | 23 May 2016 | A Study of the Long-term Effects on Mental Abilities of 4 to 5 Year-old Children with a Disease Caused by an Enzyme Defect (Phenylketonuria) that Have Been Treated with Kuvan® (a Medicinal Product aimed at Restoring the Defect) for 7 Years. | A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-Old Children with Phenylketonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years. - KOGNITO (Kuvan®’s effect on the cOGNITion of children with phenylketOnuria) | Phenylketonuria MedDRA version: 19.0 Level: LLT Classification code 10034873 Term: Phenylketonuria (PKU) System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Kuvan Pharmaceutical Form: Soluble tablet INN or Proposed INN: SAPROPTERIN CAS Number: 62989-33-7 Other descriptive name: tetrahydrobiopterin Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | BioMarin International Ltd. | Authorised | Female: yes Male: yes | 60 | Phase 4 | Spain;Germany;United Kingdom | |||
| 30 | NCT01889862 | July 29, 2013 | 26 August 2019 | Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU | A Four-Part, Phase 3, Randomized, Double-Blind, Placebo- Controlled, Four-Arm, Discontinuation Study to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self-Administered by Adults With Phenylketonuria (PKU) | Phenylketonuria (PKU) | Drug: BMN165 20mg/day;Drug: BMN165 40mg/day;Drug: Placebo | BioMarin Pharmaceutical | Not recruiting | 18 Years | 70 Years | All | 215 | Phase 3 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 31 | NCT01819727 | May 2013 | 16 December 2017 | An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 | A Phase 3, Open-Label, Randomized, Multi-Center Study to Assess the Safety & Tolerability of an Induction, Titration, and Maintenance Dose Regimen of BMN 165 Self Administered by Adults With PKU Not Previously Treated With BMN 165 | Phenylketonuria | Drug: BMN 165 | BioMarin Pharmaceutical | Not recruiting | 18 Years | 70 Years | All | 261 | Phase 3 | United States | |
| 32 | NCT01806051 | March 2013 | 19 October 2017 | A Pilot Study on Diurnal Variation | A Pilot Study on the Diurnal Variation in PKU Patients With Kuvan | Phenylketonuria (PKU) | Drug: Kuvan | Dr. Linda Randolph | BioMarin Pharmaceutical | Not recruiting | 4 Years | N/A | All | 6 | N/A | United States |
| 33 | NCT01732471 | November 2012 | 19 October 2017 | Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria | A Phase III Non-comparative Open-label Clinical Study to Evaluate the Response to and Safety of Kuvan (Sapropterin Dihydrochloride) After 6 Weeks of Treatment in Patients of 4 to 18 Years of Age With Phenylketonuria Who Have Elevated Blood Phenylalanine Levels | Phenylketonuria | Drug: Kuvan® | Merck KGaA | Not recruiting | 4 Years | 18 Years | All | 90 | Phase 3 | Germany | |
| 34 | NCT01560286 | May 2012 | 26 August 2019 | A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks | A Phase II, Multi-center, Open-label, Dose-finding Study to Evaluate Safety, Efficacy and Tolerability of Subcutaneously (SC) Administered rAvPAL-PEG in Patients With PKU for 24 Weeks | Phenylketonuria | Biological: BMN 165 (rAvPAL-PEG) | BioMarin Pharmaceutical | Not recruiting | 16 Years | 70 Years | All | 24 | Phase 2 | United States | |
| 35 | NCT01617070 | May 2012 | 19 October 2017 | Effects of Kuvan on Melatonin Secretion | Pilot Study to Evaluate Melatonin Secretion as a Marker of Decreased Serotonin in Individuals With PKU: Evaluation of the CNS Effects of Tetrahydrobiopterin | Phenylketonuria (PKU) | Drug: Kuvan;Dietary Supplement: Large Neutral Amino Acid Therapy | University of Southern California | BioMarin Pharmaceutical | Not recruiting | 18 Years | N/A | All | 10 | Phase 4 | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 36 | NCT01395394 | June 2011 | 19 October 2017 | Phenylketonuria, Oxidative Stress, and BH4 | The Ability of Kuvan® (Sapropterin Dihydrochloride) to Prevent Meal-induced Lipid Peroxidation and Endothelial Dysfunction in Patients With Phenylketonuria: a Pilot Study | Phenylketonuria | Drug: Kuvan;Other: Meal Challenge | Emory University | Not recruiting | 10 Years | 45 Years | All | 12 | Phase 2 | United States | |
| 37 | NCT01541397 | June 2011 | 19 October 2017 | Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy | Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy | Hyperphenylalaninemia;Phenylketonuria | Drug: Sapropterin | The University of Texas Health Science Center, Houston | BioMarin Pharmaceutical | Not recruiting | 18 Years | 50 Years | All | 6 | N/A | United States |
| 38 | NCT01412437 | April 2011 | 19 February 2015 | 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 | Not recruiting | 18 Years | 40 Years | Both | 0 | N/A | United States |
| 39 | NCT01212744 | March 2011 | 16 December 2017 | Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) | A Phase 2, Open-Label Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Dose Levels of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria | Phenylketonuria | Drug: rAvPAL-PEG | BioMarin Pharmaceutical | Not recruiting | 16 Years | 70 Years | All | 16 | Phase 2 | United States | |
| 40 | EUCTR2009-015768-33-GB | 04/01/2011 | 30 April 2019 | Safety Paediatric efficAcy phaRmacokinetic with Kuvan® | A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Pharmacokinetics of Sapropterin Dihydrochloride (Kuvan®) in Phenylketonuria (PKU) Patients <4 Years Old - SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) | Phenylketonuria MedDRA version: 19.0 Level: LLT Classification code 10034873 Term: Phenylketonuria (PKU) System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kuvan Product Name: Sapropterin Dihydrocholoride Product Code: NAP Pharmaceutical Form: Soluble tablet INN or Proposed INN: SAPROPTERIN CAS Number: 62989337 Other descriptive name: tetrahydrobiopterin Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | BioMarin International Ltd. | Not Recruiting | Female: yes Male: yes | 56 | Phase 3 | Portugal;Czech Republic;Slovakia;Belgium;Turkey;Austria;Netherlands;Germany;Italy;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 41 | NCT01274026 | January 2011 | 24 September 2018 | Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders | Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression in PKU Nonresponders to Kuvan® (Sapropterin Dihydrochloride) | Phenylketonuria;Behavior and Behavior Mechanisms;PAH Gene Expression | Drug: sapropterin dihydrochloride | Tulane University School of Medicine | BioMarin Pharmaceutical | Not recruiting | 2 Years | N/A | All | 21 | Phase 4 | United States |
| 42 | EUCTR2010-019767-11-AT | 08/09/2010 | 4 August 2015 | Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1 | Ö-PKU 1 – Evaluation of a Test for the identication of BH4 responsive PKU patients - Ö-PKU1 | Hyperphenylalaninaemia (HPA) in adult and paediatric patients of 4 years of age and over with phenylketonuria (PKU). | Trade Name: Kuvan Pharmaceutical Form: Soluble tablet | Graz Medical University | Not Recruiting | Female: yes Male: yes | Austria | |||||
| 43 | NCT01114737 | August 2010 | 19 October 2017 | Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients | A Double-blind, Placebo-controlled, Randomized Study to Evaluate the Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Subjects With Phenylketonuria | Phenylketonuria | Drug: Sapropterin dihydrochloride;Drug: Placebo | BioMarin Pharmaceutical | Not recruiting | 8 Years | 65 Years | All | 206 | Phase 3 | United States;Canada | |
| 44 | NCT01082328 | May 2010 | 19 October 2017 | Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period | ENDURE: A Phase IV, Prospective, Open-label, Uncontrolled, Multi-centre Cohort Trial to Assess the Responsiveness of Subjects With Phenylketonuria (PKU) to Treatment With Kuvan® 20 mg/kg/Day for 28 Days | Phenylketonuria | Drug: Kuvan® | Merck KGaA | Merck Serono Norway;Smerud Medical Research International AS | Not recruiting | 4 Years | N/A | All | 59 | Phase 4 | Norway |
| 45 | EUCTR2009-018168-81-DK | 16/04/2010 | 6 May 2013 | ENDURE: A Phase IV, prospective, open-label, uncontrolled, multi-centre cohort trial to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 28 days - ENDURE | ENDURE: A Phase IV, prospective, open-label, uncontrolled, multi-centre cohort trial to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 28 days - ENDURE | Subjects diagnosed with Phenylketonuria (PKU) (classic or mild PKU, or mild hyperphenylalaninaemia (HPA)). MedDRA version: 14.1 Level: LLT Classification code 10034873 Term: Phenylketonuria (PKU) System Organ Class: 10010331 - Congenital, familial and genetic disorders | Trade Name: Kuvan INN or Proposed INN: Sapropterindihydrochloride CAS Number: 69056-38-8 Other descriptive name: SAPROPTERIN HYDROCHLORIDE Concentration unit: mg/kg milligram(s)/kilogram Concentration number: 100 - | Merck Serono Norway | Not Recruiting | Female: yes Male: yes | 70 | Phase 4 | Denmark | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 46 | NCT00986973 | March 2010 | 19 October 2017 | Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy | A Pilot Study of FDG PET Findings in Patients With Phenylketonuria Before and After BH4 Supplementation | Phenylketonuria | Drug: Sapropterin | Children's Hospital of Philadelphia | Not recruiting | 18 Years | 50 Years | All | 6 | N/A | United States | |
| 47 | NCT00924703 | October 8, 2009 | 15 April 2019 | Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) | Long-term Extension of a Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects With PKU | Phenylketonuria | Drug: rAvPAL-PEG | BioMarin Pharmaceutical | Not recruiting | 16 Years | 55 Years | All | 68 | Phase 2 | United States | |
| 48 | NCT00925054 | September 2009 | 16 December 2017 | Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU | Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous (SC) Doses of rAvPAL-PEG in Subjects With PKU | Phenylketonuria | Drug: rAvPAL-PEG | BioMarin Pharmaceutical | Not recruiting | 16 Years | 55 Years | All | 40 | Phase 2 | United States | |
| 49 | NCT00964236 | August 2009 | 18 January 2018 | The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) | The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) | Phenylketonuria | Drug: Sapropterin | University of Missouri-Columbia | BioMarin Pharmaceutical | Not recruiting | 6 Years | N/A | All | 20 | N/A | United States |
| 50 | NCT00909012 | May 2009 | 11 June 2018 | 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 | Not recruiting | 5 Years | 13 Years | All | 114 | N/A | Germany;Italy;Spain;United Kingdom |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 51 | NCT00838435 | February 2009 | 4 February 2019 | Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU | A Phase 3b Open-Label Study to Evaluate the Effect of Kuvan® on Neurocognitive Function, Maintenance of Blood Phenylalanine Concentrations, Safety, and Population Pharmacokinetics in Young Children With Phenylketonuria | Phenylketonuria | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | Not recruiting | N/A | 6 Years | All | 230 | Phase 3 | United States;Canada | |
| 52 | NCT00827762 | January 2009 | 19 February 2015 | Behavioral Effects of Kuvan in Children With Mild Phenylketonuria | Behavioral Effects of Kuvan in Children With Mild Phenylketonuria | Phenylketonuria | Drug: Kuvan | Washington University School of Medicine | BioMarin Pharmaceutical;University of Missouri-Columbia;Northwestern University;Oregon Health and Science University | Not recruiting | 6 Years | 18 Years | Both | 2 | N/A | United States |
| 53 | EUCTR2009-012978-12-NO | 2 October 2017 | A Phase IV, prospective, open-label, uncontrolled, single-centre cohort trial to be conducted in Norway to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 7 days. - Response to Kuvan® in subjects with PKU from a single centre in Norway | A Phase IV, prospective, open-label, uncontrolled, single-centre cohort trial to be conducted in Norway to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 7 days. - Response to Kuvan® in subjects with PKU from a single centre in Norway | Hyperphenylalaninemia (HPA) in adults and children >=16 years of age with phenylketonuri (PKU) (classic or mild PKU, or mild hyperphenylalaninemia (HPA)). MedDRA version: 9.1 Level: LLT Classification code 10034872 Term: Phenylketonuria MedDRA version: 9.1 Level: LLT Classification code 10034873 Term: Phenylketonuria (PKU) MedDRA version: 9.1 Level: PT Classification code 10034872 Term: Phenylketonuria MedDRA version: 9.1 Level: LLT Classification code 10034871 Term: Phenylalaninemia | Trade Name: Kuvan® (sapropterin dihydrochloride) Pharmaceutical Form: Soluble tablet INN or Proposed INN: sapropterin Concentration unit: mg/kg milligram(s)/kilogram Concentration type: equal Concentration number: 20- | Merck Serono, an affiliate of E. Merck AB | Not Recruiting | Female: yes Male: yes | Phase 4 | Norway | |||||
| 54 | NCT00841100 | December 2008 | 19 February 2015 | 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 | University of Miami | Recruiting | 4 Years | N/A | Both | 20 | N/A | United States | |
| 55 | NCT00688844 | October 2008 | 19 October 2017 | Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 | Baseline Evaluation and Long-term Follow-up of Nutritional Status and Neurotransmitter Concentrations in Phenylketonuria Patients Initiating Treatment With Sapropterin Dihydrochloride (KuvanTM), a Tetrahydrobiopterin Analog. | Phenylketonuria | Drug: KuvanTM Therapy | Emory University | BioMarin Pharmaceutical;Atlanta Clinical and Translational Science Institute | Not recruiting | 4 Years | N/A | All | 58 | N/A | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 56 | NCT00789568 | October 2008 | 19 February 2015 | A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects | A Phase 1, Randomized, Placebo- and Active-controlled Crossover Study to Evaluate the Effects of Sapropterin Dihydrochloride Oral Administration on QTc Intervals in Healthy Adult Subjects | Phenylketonuria | Drug: sapropterin dihydrochloride;Drug: Moxifloxacin | BioMarin Pharmaceutical | Not recruiting | 18 Years | 50 Years | Both | 56 | Phase 1 | United States | |
| 57 | NCT00778206 | September 2008 | 4 February 2019 | PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry | PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry | Phenylketonuria;Hyperphenylalaninaemia | Drug: Kuvan | BioMarin Pharmaceutical | Recruiting | N/A | N/A | All | 3500 | Phase 1/Phase 2 | United States;Puerto Rico | |
| 58 | NCT00730080 | July 2008 | 25 June 2018 | Sapropterin in Individuals With Phenylketonuria | Effects of Sapropterin on Brain and Cognition in Individuals With Phenylketonuria | Phenylketonuria | Drug: Sapropterin (Kuvan) | Washington University School of Medicine | BioMarin Pharmaceutical;University of Missouri-Columbia | Not recruiting | 6 Years | 50 Years | All | 45 | Phase 1 | United States |
| 59 | NCT00634660 | May 2008 | 16 December 2017 | Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria | A Phase I, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single, Subcutaneous Doses of rAvPAL-PEG in Subjects With Phenylketonuria | Phenylketonuria | Drug: rAvPAL-PEG | BioMarin Pharmaceutical | Not recruiting | 16 Years | 50 Years | All | 25 | Phase 1 | United States | |
| 60 | NCT00892554 | June 2007 | 21 December 2015 | 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 | Not recruiting | 12 Years | 50 Years | Female | 33 | N/A | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 61 | NCT00484991 | February 2007 | 19 February 2015 | Sapropterin Expanded Access Program | Sapropterin Expanded Access Program | Phenylketonuria | Drug: Sapropterin dihydrochloride | BioMarin Pharmaceutical | Not recruiting | 9 Years | N/A | Both | N/A | United States | ||
| 62 | EUCTR2006-000839-10-DE | 09/08/2006 | 19 March 2012 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 - NA | Phenylketonuria (PKU) MedDRA version: 6.1 Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 Pharmaceutical Form: Tablet INN or Proposed INN: Sapropterin CAS Number: 69056-38-8 Current Sponsor code: T1401 Other descriptive name: sapropterin dihydrochloride Concentration unit: mg milligram(s) Concentration type: not less then Concentration number: 100- | BioMarin Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 128 | Phase 3b | United Kingdom;Germany;Spain;Ireland;Italy | |||
| 63 | NCT00355264 | August 2006 | 19 February 2015 | Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency | Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency | Tetrahydrobiopterin Deficiencies;Hyperphenylalaninemia, Non-Phenylketonuric | Drug: Phenoptin | BioMarin Pharmaceutical | Not recruiting | N/A | N/A | Both | 12 | Phase 2 | United States | |
| 64 | EUCTR2005-003778-13-DE | 13/07/2006 | 19 March 2012 | A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency | A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency | Phenylketonuria (PKU) MedDRA version: 8.1 Level: LLT Classification code 10034872 Term: Phenylketonuria | Product Name: Phenoptin Product Code: T1401 Pharmaceutical Form: Tablet INN or Proposed INN: Sapropterin CAS Number: 69056-38-8 Current Sponsor code: T1401 Other descriptive name: saproterin dihydrochloride Concentration unit: mg milligram(s) Concentration type: not less then Concentration number: 100- | BioMarin Pharmaceutical Inc | Not Recruiting | Female: yes Male: yes | 15 | Phase 2 | Germany | |||
| 65 | NCT00332189 | July 2006 | 19 October 2017 | Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 | A Phase 3b, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 | Phenylketonuria | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | Not recruiting | 4 Years | N/A | All | 111 | Phase 3 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 66 | EUCTR2006-000648-15-AT | 08/06/2006 | 10 June 2013 | A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency | A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency | Hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Phenotypes: classic phenylketonuria (PKU), mild PKU (MPK) or mild hyperphenylalaninemia (HPA). MedDRA version: 81 Level: LLT Classification code 10034873 | Product Name: tetrahydrobiopterin Product Code: BH4 Pharmaceutical Form: Oral solution INN or Proposed INN: Sapropterin CAS Number: 69056-38-8 Current Sponsor code: BH4 Other descriptive name: n.a. Concentration unit: mg/kg milligram(s)/kilogram Concentration type: equal Concentration number: 10-10 Pharmaceutical form of the placebo: Oral solution Route of administration of the placebo: Oral use | ORPHANETICS Pharma Entwicklungs- GmbH | Authorised | Female: yes Male: yes | 75 | Austria | ||||
| 67 | EUCTR2005-003777-24-DE | 24/03/2006 | 19 March 2012 | 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 Pharmaceutical Form: Tablet INN or Proposed INN: Sapropterin CAS Number: 69056-38-8 Current Sponsor code: T1401 Other descriptive name: sapropterin dihydrochloride Concentration unit: mg milligram(s) Concentration type: not less then Concentration number: 100- Pharmaceutical form of the placebo: Tablet Route of administration of the placebo: Oral use | BioMarin Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 300 | Phase 3 | Germany;Spain | |||
| 68 | NCT00225615 | November 2005 | 19 February 2015 | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonurias | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | Not recruiting | 8 Years | N/A | Both | 100 | Phase 3 | United States | |
| 69 | EUCTR2004-004513-41-GB | 25/10/2005 | 19 March 2012 | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonuria (PKU) MedDRA version: 6.1 Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 Pharmaceutical Form: Tablet INN or Proposed INN: Sapropterin, sapropterin dihydrochloride CAS Number: 69056-38-8 Concentration unit: mg milligram(s) Concentration type: not less then Concentration number: 100- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 100 | Phase 3 | Germany;United Kingdom;Ireland;Italy | |||
| 70 | EUCTR2004-004512-23-IE | 22/05/2005 | 1 May 2012 | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1 Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 Pharmaceutical Form: Tablet INN or Proposed INN: Sapropterin, sapropterin hydrochloride CAS Number: 69056-38-8 Concentration unit: mg milligram(s) Concentration type: not less then Concentration number: 100- Pharmaceutical form of the placebo: Tablet Route of administration of the placebo: Oral use | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 100 | Phase 3 | Germany;United Kingdom;Ireland;Italy | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 71 | NCT00244218 | April 2005 | 19 February 2015 | Response to Phenylketonuria to Tetrahydrobiopterin (BH4) | Response to Phenylketonuria to Tetrahydrobiopterin (BH4) | Phenylketonuria | Drug: tetrahydrobiopterin (BH4) | FDA Office of Orphan Products Development | Recruiting | 10 Years | N/A | Both | 36 | Phase 1 | United States | |
| 72 | NCT00260000 | April 2005 | 19 February 2015 | Study of BH4, a New and Simple Treatment of Mild PKU | Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation | Phenylketonuria | Drug: 5,6,7,8-tetrahydrobiopterin | The Kennedy Institute-National Eye Clinic | Sygekassernes Helsefond | Not recruiting | 8 Years | N/A | Both | 15 | Phase 2 | Denmark |
| 73 | NCT00104247 | March 2005 | 19 October 2017 | Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonurias | Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin | BioMarin Pharmaceutical | Not recruiting | 8 Years | N/A | All | 89 | Phase 3 | United States | |
| 74 | NCT00104260 | December 2004 | 19 February 2015 | Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels | Phenylketonurias | Drug: sapropterin dihydrochloride | BioMarin Pharmaceutical | Not recruiting | 8 Years | N/A | Both | 700 | Phase 2 | United States | |
| 75 | EUCTR2004-002365-21-DK | 03/11/2004 | 3 April 2012 | 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 Pharmaceutical Form: Tablet | John F. Kennedy Institute | Not Recruiting | Female: yes Male: yes | Denmark | |||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 76 | EUCTR2004-002071-16-IE | 2 October 2017 | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin Treatment in Subjects with Phenylketonuria Who Have Elevated Phenylalanine Levels - NA | Phenylketonuria (PKU) MedDRA version: 6.1 Classification code 10034872 | Product Name: Phenoptin Product Code: T1401 Pharmaceutical Form: Tablet INN or Proposed INN: Sapropterin, sapropterin hydrochloride CAS Number: 69056-38-8 Concentration unit: mg milligram(s) Concentration type: not less then Concentration number: 100 mg- | BioMarin Pharmaceutical Inc. | Not Available | Female: yes Male: yes | 400 | Phase 2 | Ireland;Germany;Italy;United Kingdom | ||||
| 77 | NCT00065299 | May 1984 | 19 February 2015 | 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) | Not recruiting | N/A | N/A | Female | 572 | N/A | United States | |
| 78 | NCT00006142 | December 1983 | 19 February 2015 | 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 | Not recruiting | N/A | N/A | Female | N/A |