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)Ended earlyNCT03952156What this trial is testingGene Therapy Clinical Study in Adult PKUWho this might be right forPhenylketonuriasPAH Deficiency Homology Medicines, Inc 10
Post-approval studies (Phase 4)Not Yet RecruitingNCT07477691What this trial is testingImmune Modulation During Palynziq® Treatment in Adults (IMPALA)Who this might be right forPhenylketonuria BioMarin Pharmaceutical 12
Not applicableStudy completedNCT00778206What this trial is testingPKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety RegistryWho this might be right forPhenylketonuriaHyperphenylalaninaemia BioMarin Pharmaceutical 1,887
Not applicableStudy completedNCT01619722What this trial is testingStudy of a National Cohort of Adult Patients With PhenylketonuriaWho this might be right forPKUHyperphenylalaninemia University Hospital, Tours 220
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
Not applicableStudy completedNCT01209819What this trial is testingBone Mineral Density in Adults With HyperphenylalaninemiaWho this might be right forPhenylketonurias The University of Texas Health Science Center, Houston 28
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
Not applicableStudy completedNCT00338520What this trial is testingHyperphenylalaninemia in Cerebral MalariaWho this might be right forPlasmodium Falciparum Malaria University of Utah 285
Not applicableWithdrawnNCT04272736What this trial is testingPKU Low Calorie Drink StudyWho this might be right forPhenylketonuriasHyperphenylalaninaemia Nutricia UK Ltd
Not applicableStudy completedNCT01924026What this trial is testingNeurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP StudyWho this might be right forPhenylketonuriaMild Hyperphenylalaninemia The Hospital for Sick Children 10
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
Not applicableStudy completedNCT01869972What this trial is testingBiological Variation of Phenylalanine in Patients With HyperphenylalaninemiaWho this might be right forPhenylketonuriaHyperphenylalaninemia Hamilton Health Sciences Corporation 32
Not applicableNot Yet RecruitingNCT07551921What this trial is testingPheCheck™ Validation StudyWho this might be right forPhenylketonuria (PKU) and Hyperphenylalaninemia Aptatek BioSciences, Inc 60
Not applicableStudy completedNCT01879995What this trial is testingPhenylketonuria and Hyperphenylalaninemia Nutrition StudyWho this might be right forPhenylketonuria (PKU) and Hyperphenylalaninemia University of Zurich 30
Not applicableStudy completedNCT02212288What this trial is testingAntioxidant Signature in Adult Patients With PhenylketonuriaWho this might be right forPKUHyperphenylalaninemia University Hospital, Tours 20
Post-approval studies (Phase 4)Study completedNCT01082328What this trial is testingResponse to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing PeriodWho this might be right forPhenylketonuria Merck KGaA, Darmstadt, Germany 59