Not applicableEnrolling By InvitationNCT07163260What this trial is testingDefeat Rare Disease in Asia and Pacific (APAC) DRDA - HaemophiliaWho this might be right forHaemophilia Novo Nordisk A/S 244
Not applicableLooking for participantsNCT04463316What this trial is testingGROWing Up With Rare GENEtic SyndromesWho this might be right forPrader-Willi SyndromePWS-like SyndromeSilver Russel Syndrome+30 more dr. Laura C. G. de Graaff-Herder 600
Not applicableStudy completedNCT00004489What this trial is testingRandomized Study of Alendronate in Adult Patients With Cystic Fibrosis Related OsteoporosisWho this might be right forOsteoporosisCystic Fibrosis University of North Carolina 60
Testing effectiveness (Phase 2)Study completedNCT02358538What this trial is testingOpen-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic EpilepsiesWho this might be right forEpilepsy Marinus Pharmaceuticals 30
Not applicableStudy completedNCT05643274What this trial is testingUse of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental TroublesWho this might be right forGenetic DiseaseNeurologic DisorderDevelopmental Delay Disorder+1 more Nantes University Hospital 10
Not applicableUnknownNCT03491280What this trial is testingDiagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare DiseasesWho this might be right forRare DiseasesGenetic Predisposition University Hospital Tuebingen 5,500
Not applicableLooking for participantsNCT07447648What this trial is testingAssessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)Who this might be right forHomozygous Familial Hypercholesterolemia (HoFH)Coronary Computed Tomography Angiography Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) 52
Not applicableLooking for participantsNCT06871696What this trial is testingGenetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)Who this might be right forGenetic of Intellectual DeficiencyAutism Spectrum Disorder Institut National de la Santé Et de la Recherche Médicale, France 1,000
Not applicableActive Not RecruitingNCT05720923What this trial is testingAnalysis of Muscular Properties in Patients With MFS and EDSWho this might be right forRare DiseasesMarfan SyndromeEhlers-Danlos Syndrome IRCCS Policlinico S. Donato 65
Not applicableStudy completedNCT00006059What this trial is testingGenetic Study of Familial EpilepsyWho this might be right forEpilepsy National Center for Research Resources (NCRR) 898
Not applicableStudy completedNCT00004648What this trial is testingStudies of Hereditary Hemorrhagic TelangiectasiaWho this might be right forTelangiectasia, Hereditary Hemorrhagic National Center for Research Resources (NCRR) 65
Not applicableLooking for participantsNCT04778657What this trial is testingNational Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood CellWho this might be right forStomatocytosis Assistance Publique - Hôpitaux de Paris 150
Not applicableLooking for participantsNCT00369421What this trial is testingDiagnosis and Treatment of Patients With Inborn Errors of MetabolismWho this might be right forArterial Calcification Due to Deficiency of CD73 National Human Genome Research Institute (NHGRI) 4,000
Testing effectiveness (Phase 2)Study completedNCT00004393What this trial is testingPhase II Double Blind Placebo Controlled Trial of Risperidone in Tourette SyndromeWho this might be right forTourette Syndrome National Center for Research Resources (NCRR) 50
Not applicableStudy completedNCT05161494What this trial is testingGait in Rare DiseasesWho this might be right forTuberous SclerosisSTXBP1 Encephalopathy With Epilepsy Universiteit Antwerpen 41
Not applicableStudy completedNCT03855631What this trial is testingExploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic DisordersWho this might be right forKabuki Syndrome 1 University Hospital, Montpellier 8
Not applicableUnknownNCT06412718What this trial is testingValidation of Human Drugs Target of Repurposed Drugs and Novel TherapiesWho this might be right forRare DiseasesAniridiaNeurotrophic Keratopathy+5 more IRCCS Ospedale San Raffaele 274
Not applicableStudy completedNCT00359580What this trial is testingGenetic Studies in the Amish and MennonitesWho this might be right forGenetic Disease National Human Genome Research Institute (NHGRI) 157
Not applicableNot Yet RecruitingNCT06060184What this trial is testingInitiative for Clinical Long-read SequencingWho this might be right forGenetic Predisposition University Hospital Tuebingen 500
Not applicableLooking for participantsNCT05954416What this trial is testingFARD (RaDiCo Cohort) (RaDiCo-FARD)Who this might be right forInherited Epidermolysis BullosaIchthyosisEctodermal Dysplasia+6 more Institut National de la Santé Et de la Recherche Médicale, France 900