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 applicableApproved For MarketingNCT00484991What this trial is testingSapropterin Expanded Access ProgramWho this might be right forPhenylketonuria BioMarin Pharmaceutical
Not applicableLooking for participantsNCT07825883What this trial is testingThe Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic PhenylketonuriaWho this might be right forPhenylketonuria (PKU) Michał Kania 36
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 applicableEnded earlyNCT01541397What this trial is testingBone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan TherapyWho this might be right forHyperphenylalaninemiaPhenylketonuria The University of Texas Health Science Center, Houston 6
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 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
Post-approval studies (Phase 4)Looking for participantsNCT07477691What this trial is testingImmune Modulation During Palynziq® Treatment in Adults (IMPALA)Who this might be right forPhenylketonuria BioMarin Pharmaceutical 12
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
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
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 completedNCT03864029What this trial is testingRetrospective Observational Safety Effectiveness With Kuvan in hpAWho this might be right forTetrahydrobiopterin Deficiency BioMarin Pharmaceutical 26
Early research (Phase 1)Ended earlyNCT00244218What this trial is testingResponse to Phenylketonuria to Tetrahydrobiopterin (BH4)Who this might be right forPhenylketonuria The University of Texas Medical Branch, Galveston 57
Not applicableStudy completedNCT02212288What this trial is testingAntioxidant Signature in Adult Patients With PhenylketonuriaWho this might be right forPKUHyperphenylalaninemia University Hospital, Tours 20
Not applicableActive Not RecruitingNCT03655223What 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
Not applicableNot Yet RecruitingNCT07802366What this trial is testingAcceptability and Tolerance Market Research of a Slow Release, Phenylalanine-free Protein Substitute for the Dietary Management of PhenylketonuriaWho this might be right forPhenylketonuria (PKU) and HyperphenylalaninemiaBrain Diseases, Metabolic, InbornBrain Disorder, Metabolic+10 more metaX Institut fuer Diatetik GmbH 10
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