Not applicableWithdrawnNCT04272736What this trial is testingPKU Low Calorie Drink StudyWho this might be right forPhenylketonuriasHyperphenylalaninaemia Nutricia UK Ltd
Not applicableStudy completedNCT03167697What this trial is testingEvaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or HyperphenylalaninemiaWho this might be right forPhenylketonuriasHyperphenylalaninaemia, Type I Nutricia UK Ltd 14
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
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 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
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 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
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 completedNCT00065299What this trial is testingLow Phenylalanine Diet for Mothers With Phenylketonuria (PKU)Who this might be right forPhenylketonuria Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 572
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 applicableStudy completedNCT00338520What this trial is testingHyperphenylalaninemia in Cerebral MalariaWho this might be right forPlasmodium Falciparum Malaria University of Utah 285
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
Not applicableStudy completedNCT00778206What this trial is testingPKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety RegistryWho this might be right forPhenylketonuriaHyperphenylalaninaemia BioMarin Pharmaceutical 1,887
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 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 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 applicableStudy completedNCT01879995What this trial is testingPhenylketonuria and Hyperphenylalaninemia Nutrition StudyWho this might be right forPhenylketonuria (PKU) and Hyperphenylalaninemia University of Zurich 30
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
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