Not applicableStudy completedNCT00359515What this trial is testingGenetic Analysis of Oculocerebrorenal Syndrome of LoweWho this might be right forLowe Syndrome National Human Genome Research Institute (NHGRI) 120
Not applicableStudy completedNCT02320084What this trial is testingLong Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical CareWho this might be right forHereditary Tyrosinemia, Type I Swedish Orphan Biovitrum 315
Not applicableStudy completedNCT03505125What this trial is testingA Non-Interventional Interview Study of Phenylketonuria (PKU) AdultsWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 63
Early research (Phase 1)Study completedNCT00002321What this trial is testingA Phase I Study of the Safety of Proleukin (Aldesleukin) in Combination With Ganciclovir and Antiretroviral Therapy in HIV Seropositive Patients With Cytomegalovirus (CMV) RetinitisWho this might be right forCytomegalovirus RetinitisHIV Infections Chiron Corporation
Not applicableStudy completedNCT01428258What this trial is testingPhase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of PhenylketonuriaWho this might be right forPhenylketonuria University of Wisconsin, Madison 32
Testing effectiveness (Phase 2)Ended earlyNCT01663935What this trial is testingVision Response to Dopamine ReplacementWho this might be right forAlbinismOculocutaneous Albinism University of Wisconsin, Madison 20
Not applicableStudy completedNCT02770833What this trial is testingAcute Effects of Different Protein Sources and Different Glycemic Index on Energy Balance, Glucose Allostasis and Amino Acid Metabolism: a Randomized, 4-condition, Two Cross-over Study in Adults.Who this might be right forOverweight University of Copenhagen 48
Not applicableStudy completedNCT06845397What this trial is testingChuvashia Inappropriate Prescribing StudyWho this might be right forMultimorbidity, Cardiovascular Diseases National Medical Research Center for Therapy and Preventive Medicine 300
Not applicableLooking for participantsNCT00005917What this trial is testingStudy of Chediak-Higashi SyndromeWho this might be right forChediak-Higashi Syndrome National Human Genome Research Institute (NHGRI) 60
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)UnknownNCT03830034What this trial is testingAmino Acid Chelated Iron Versus Ferrous Fumarate in the Treatment of Iron Deficiency Anemia With Pregnancy: Randomized Controlled TrialWho this might be right forIron Deficiency Anemia Ain Shams University 150
Very early researchNot Yet RecruitingNCT07318909What this trial is testingTo Evaluate the Safety and Efficacy of GS1168 Injection in Adult PhenylketonuriaWho this might be right forPhenylketonuria (PKU) Gritgen Therapeutics Co., Ltd. 9
Not applicableStudy completedNCT04495218What this trial is testingNGS Panel of Incomplete Forms of Ocular AlbinismWho this might be right forAlbinism, Ocular University Hospital, Bordeaux 53
Not applicableLooking for participantsNCT06305234What this trial is testingA Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)Who this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 200
Not applicableStudy completedNCT03721367What this trial is testingChronic Liver Disease in Urea Cycle DisordersWho this might be right forUrea Cycle Disorder Baylor College of Medicine 28
Large-scale testing (Phase 3)UnknownNCT01824030What this trial is testingFFR or OCT Guidance to RevasculariZe Intermediate Coronary Stenosis Using AngioplastyWho this might be right forIschemic Heart Disease Catholic University of the Sacred Heart 400
Testing effectiveness (Phase 2)WithdrawnNCT00514982What this trial is testingMedical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWho this might be right forHermanski-Pudlak SyndromeColitisCytokines+2 more National Institute of Allergy and Infectious Diseases (NIAID)
Not applicableLooking for participantsNCT05584488What this trial is testingAllergy and Immunology Natural History StudyWho this might be right forImmune DeficiencyImmune Dysregulation DisorderAllergic Inflammation Columbia University 10,000
Not applicableStudy completedNCT02124330What this trial is testingProtein Sorbent Properties of Montmorillonite in Vitro and in Vivo ModelsWho this might be right forUrea Cycle Disorders, InbornOther Metabolic Diseases Luca Ronfani 35
Not applicableStudy completedNCT00004495What this trial is testingRandomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving HemodialysisWho this might be right forEnd Stage Renal DiseaseHyperhomocysteinemia Georgetown University 84