Testing effectiveness (Phase 2)Study completedNCT02715115What this trial is testingA Safety Study of NNZ-2566 in Pediatric Rett SyndromeWho this might be right forRett Syndrome Neuren Pharmaceuticals Limited 82
Not applicableStudy completedNCT03087526What this trial is testingNIPD on CFTC for Triplet Repeat DiseasesWho this might be right forNon Invasive Prenatal Diagnosis University Hospital, Montpellier 60
Testing effectiveness (Phase 2)Study completedNCT01703533What this trial is testingA Safety Study of NNZ-2566 in Patients With Rett SyndromeWho this might be right forRett Syndrome Neuren Pharmaceuticals Limited 67
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
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 applicableLooking for participantsNCT05554835What this trial is testingGlobal Registry and Natural History Study for Mitochondrial DisordersWho this might be right forMitochondrial DiseasesKearns-Sayre SyndromeMIDD+15 more LMU Klinikum 6,000
Not applicableLooking for participantsNCT04880356What this trial is testingLongitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.Who this might be right forInherited DiseaseRare DiseasesMetabolic Disease+3 more Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableLooking for participantsNCT05443906What this trial is testingHome Exercise for Individuals with Neurodegenerative DiseaseWho this might be right forNeurodegenerative DiseasesLeukodystrophyAtaxia+5 more Hugo W. Moser Research Institute at Kennedy Krieger, Inc. 30
Not applicableLooking for participantsNCT01694940What this trial is testingNorth American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)Who this might be right forMitochondrial DisordersMitochondrial Genetic DisordersMitochondrial Diseases+2 more Columbia University 1,000
Not applicableLooking for participantsNCT01793168What this trial is testingRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordWho this might be right forRare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more Sanford Health 20,000
Not applicableLooking for participantsNCT06065852What this trial is testingNational Registry of Rare Kidney DiseasesWho this might be right forAdenine Phosphoribosyltransferase DeficiencyAH AmyloidosisAHL Amyloidosis+81 more UK Kidney Association 35,000