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
Early research (Phase 1)Study completedNCT05343715What this trial is testingPK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV InfusionWho this might be right forFabry Disease Bio Sidus SA 24
Not applicableStudy completedNCT03505125What this trial is testingA Non-Interventional Interview Study of Phenylketonuria (PKU) AdultsWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 63
Not applicableEnded earlyNCT03886714What this trial is testingScreening for Fabry Disease in Renal TransplantationWho this might be right forFabry DiseaseNephropathy University Hospital, Montpellier 592
Very early researchStudy completedNCT03838016What this trial is testingPreventing Speech and Language Disorders in Children With Classic GalactosemiaWho this might be right forClassic GalactosemiaSpeech Disorders in ChildrenLanguage Disorders in Children Arizona State University 285
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
Not applicableLooking for participantsNCT07290114What this trial is testingMesh-Free Versus Mesh-Based Surgery for Female Stress Urinary Incontinence: A Prospective Comparison of Pubo-Urethral Ligament Plication and Transobturator TapeWho this might be right forStress Urinary Incontinence (SUI) Mehmet Incebıyik 147
Large-scale testing (Phase 3)Study completedNCT02841215What this trial is testingEfficacy Study Between Two Different Dosages of an Antiparasitic in Patients With Crusted ScabiesWho this might be right forGaleSevere Forms of ScabiesOral Parasitic Drug+1 more Assistance Publique - Hôpitaux de Paris 133
Early research (Phase 1)Not Yet RecruitingNCT07787650What this trial is testingS-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)Who this might be right forPompe Disease Shionogi 15
Not applicableStudy completedNCT02336633What this trial is testingResveratrol and Huntington DiseaseWho this might be right forHuntington Disease Assistance Publique - Hôpitaux de Paris 102
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 applicableEnded earlyNCT00149318What this trial is testingEnzyme Replacement Therapy in Fabry DiseaseWho this might be right forFabry Disease Mario Negri Institute for Pharmacological Research 2
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
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
Large-scale testing (Phase 3)Study completedNCT00125879What this trial is testingExtension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602Who this might be right forGlycogen Storage Disease Type II Genzyme, a Sanofi Company 16
Not applicableEnded earlyNCT00078091What this trial is testingGenetics and Clinical Characteristics of Bardet-Biedl SyndromeWho this might be right forBardet-Biedl Syndrome National Human Genome Research Institute (NHGRI) 194
Large-scale testing (Phase 3)Study completedNCT00059280What this trial is testingThe Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe DiseaseWho this might be right forGlycogen Storage Disease Type II Genzyme, a Sanofi Company 16
Not applicableAvailableNCT06931262What this trial is testingExpanded Access Treatment Protocol With DCA for Patients With PDCDWho this might be right forPyruvate Dehydrogenase Complex Deficiency Saol Therapeutics Inc
Not applicableActive Not RecruitingNCT05874388What this trial is testingCharacterisation of the Cognitive Profile of Patients Suffering From Friedreich's AtaxiaWho this might be right forFriedreich Ataxia Institut National de la Santé Et de la Recherche Médicale, France 70