Not applicableApproved For MarketingNCT00484991What this trial is testingSapropterin Expanded Access ProgramWho this might be right forPhenylketonuria BioMarin Pharmaceutical
Testing effectiveness (Phase 2)Active Not RecruitingNCT04480567What this trial is testingAAV Gene Therapy Study for Subjects with PKUWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 100
Not applicableStudy completedNCT05687474What this trial is testingBaby Detect : Genomic Newborn ScreeningWho this might be right forCongenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more Centre Hospitalier Universitaire de Liege 6,824
Post-approval studies (Phase 4)Active Not RecruitingNCT06901323What this trial is testingEffect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With PhenylketonuriaWho this might be right forPhenylketonuria Mansoura University 176
Early research (Phase 1)Active Not RecruitingNCT07255599What this trial is testingEvaluation of BH4 Responsiveness in Our PKU PatientsWho this might be right forPhenylketonuria (PKU) Sohag University 20
Not applicableLooking for participantsNCT07484945What this trial is testingMultiomics Approach in Adult Patients With PhenylketonuriaWho this might be right forPhenylketonuria (PKU) University Hospital, Tours 149
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
Large-scale testing (Phase 3)Study completedNCT01114737What this trial is testingSafety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) PatientsWho this might be right forPhenylketonuria BioMarin Pharmaceutical 206
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 completedNCT04086511What this trial is testingPANDA: PKU Amino Acid EvaluationWho this might be right forPhenylketonuria (PKU) Nutricia Research 37
Not applicableStudy completedNCT03858101What this trial is testingSNAP: Study Nutrients in Adult PKUWho this might be right forPhenylketonuria Nutricia Research 71
Not applicableLooking for participantsNCT04404530What this trial is testingNutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)Who this might be right forPhenylketonurias Emory University 45
Not applicableStudy completedNCT04318509What this trial is testingMarket Research - Acceptability Study for a New PKU Protein SubstituteWho this might be right forPKUPhenylketonuriasInborn Errors of Metabolism+1 more Dr. Schär AG / SPA 8
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 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 completedNCT03820804What this trial is testingNutritional Status in PhenylketonuriaWho this might be right forPhenylketonurias Universidade do Porto 94
Large-scale testing (Phase 3)Study completedNCT00104247What this trial is testingStudy to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine LevelsWho this might be right forPhenylketonurias BioMarin Pharmaceutical 89
Not applicableEnded earlyNCT05827536What this trial is testingOpen-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.Who this might be right forPhenylketonurias APR Applied Pharma Research s.a. 21
Not applicableEnrolling By InvitationNCT07703020What this trial is testingPrevalence and Determinants of Obesity in PKU PatientsWho this might be right forPhenylketonuria (PKU) Christel Tran 100
Post-approval studies (Phase 4)Study completedNCT01617070What this trial is testingEffects of Kuvan on Melatonin SecretionWho this might be right forPhenylketonuria (PKU) University of Southern California 10