Not applicableApproved For MarketingNCT00484991What this trial is testingSapropterin Expanded Access ProgramWho this might be right forPhenylketonuria BioMarin Pharmaceutical
Not applicableEnrolling By InvitationNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
Testing effectiveness (Phase 2)Study completedNCT01425528What this trial is testingStudy of Kuvan Treatment in Adults With GTPCH DeficiencyWho this might be right forGTP Cyclohydrolase Deficiency University of Utah 12
Testing effectiveness (Phase 2)Study completedNCT00355264What this trial is testingSafety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 DeficiencyWho this might be right forTetrahydrobiopterin DeficienciesHyperphenylalaninemia, Non-Phenylketonuric BioMarin Pharmaceutical 12
Testing effectiveness (Phase 2)Study completedNCT00325962What this trial is testingThe Effects of 6R-BH4 on Blood Pressure in Subjects With Poorly Controlled Systemic HypertensionWho this might be right forHypertension BioMarin Pharmaceutical 84
Not applicableLooking for participantsNCT04896281What this trial is testingPhenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICUWho this might be right forNon-Phenylketonuric Hyperphenylalaninemia Chang Gung Memorial Hospital 100
Post-approval studies (Phase 4)UnknownNCT04227080What this trial is testingBH4 Responsiveness in PAH Deficiency PKU PatientsWho this might be right forPku PhenylketonuriaPAH Deficiency Taipei Veterans General Hospital, Taiwan 40
Testing effectiveness (Phase 2)Study completedNCT03519711What this trial is testingPTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With HyperphenylalaninemiaWho this might be right forBH4 DeficiencyHyperphenylalaninemia PTC Therapeutics 8
Not applicableStudy completedNCT03864029What this trial is testingRetrospective Observational Safety Effectiveness With Kuvan in hpAWho this might be right forTetrahydrobiopterin Deficiency BioMarin Pharmaceutical 26
Not applicableStudy completedNCT01016392What this trial is testingObservational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 DeficiencyWho this might be right forHyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency BioMarin Pharmaceutical 627
Testing effectiveness (Phase 2)Study completedNCT00532844What this trial is testingA Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial DysfunctionWho this might be right forEndothelial Dysfunction BioMarin Pharmaceutical 52
Not applicableStudy completedNCT04375592What this trial is testingAcceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of PhenylketonuriaWho this might be right forPhenylketonuriasHyperphenylalaninaemiaTetrahydrobiopterin Deficiency metaX Institut fuer Diatetik GmbH 10
Early research (Phase 1)WithdrawnNCT04014712What this trial is testingO2 Transport and Utilization in Health and Lung DiseaseWho this might be right forCOPDTetrahydrobiopterin DeficiencyOxidative Stress University of Massachusetts, Amherst
Large-scale testing (Phase 3)Ended earlyNCT00432822What this trial is testingLong-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and SafetyWho this might be right forPhenylalanine Hydroxylase Deficiencies Orphanetics Pharma Entwicklungs GmbH 50