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"
16 trials found
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
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size
PhaseCountries
1NCT04227080
(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
2NCT03519711
(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
3NCT02677870
(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
4NCT03864029
(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
5NCT01395394
(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
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6EUCTR2010-019767-11-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
7NCT00986973
(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
8NCT00688844
(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
9NCT00432822
(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
10NCT00355264
(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
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11EUCTR2005-003778-13-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
12EUCTR2006-000648-15-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
13NCT00244218
(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
14NCT00260000
(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
15NCT00104247
(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
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
16EUCTR2004-002365-21-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