Not applicableStudy completedNCT03650569What this trial is testingItalian Angelman Syndrome RegistryWho this might be right forAngelman Syndrome FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS 82
Not applicableLooking for participantsNCT06539169What this trial is testingFLOWER: Following Longitudinal Outcomes With Epidemiology for Rare DiseasesWho this might be right forAlpha-ThalassemiaBeta-ThalassemiaAmyloidosis+14 more xCures 1,000
Not applicableStudy completedNCT00004694What this trial is testingStudy of Heparin Prophylaxis of Hereditary Angioedema ExacerbationsWho this might be right forAngioedema University of Iowa 24
Not applicableStudy completedNCT04148001What this trial is testingIdentifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) PatientsWho this might be right forHomozygous Familial Hypercholesterolemia (HoFH) REGENXBIO Inc. 4
Not applicableLooking for participantsNCT02450851What this trial is testingClinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases NetworkWho this might be right forGenetic Disease National Human Genome Research Institute (NHGRI) 20,000
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 applicableLooking for participantsNCT06775561What this trial is testingPrecision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding GenomesWho this might be right forNeuromuscular DiseasesEye DiseasesGenetic Disease IRCCS Azienda Ospedaliero-Universitaria di Bologna 100
Not applicableEnrolling By InvitationNCT06786754What this trial is testingFibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic DiseasesWho this might be right forRare DiseasesThoracic Aortic Aneurysm (TAA)Marfan Syndrome IRCCS Policlinico S. Donato 15
Large-scale testing (Phase 3)Study completedNCT00004490What this trial is testingPhase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic AcidosisWho this might be right forLactic Acidosis University of Florida 45
Not applicableLooking for participantsNCT03538639What this trial is testingVascular Disease Discovery ProtocolWho this might be right forVascular DysfunctionGenetic MutationsGenetic Predisposition National Heart, Lung, and Blood Institute (NHLBI) 1,000
Testing effectiveness (Phase 2)Active Not RecruitingNCT02867592What this trial is testingCabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare TumorsWho this might be right forAdrenal Cortical CarcinomaAlveolar Soft Part SarcomaCentral Nervous System Neoplasm+41 more National Cancer Institute (NCI) 109
Not applicableLooking for participantsNCT05031507What this trial is testingStudy of Skeletal DisordersWho this might be right forSkeletal Disorders Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 100
Early research (Phase 1)Study completedNCT00004398What this trial is testingPhase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of PorphyriaWho this might be right forPorphyria National Center for Research Resources (NCRR) 24
Not applicableStudy completedNCT05712564What this trial is testingFatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: SurveyWho this might be right forRare DiseasesFatigueInsomnia+1 more IRCCS Policlinico S. Donato 282
Not applicableLooking for participantsNCT03362164What this trial is testingEvaluation of HEArt invoLvement in Patients With FABRY DiseaseWho this might be right forRare DiseasesFabry DiseaseFabry Disease, Cardiac Variant+1 more Wuerzburg University Hospital 650
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 applicableLooking for participantsNCT05361811What this trial is testingAcceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled TrialWho this might be right forNeurofibromatosis 1Noonan SyndromeLegius Syndrome+2 more National Cancer Institute (NCI) 70
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07041814What this trial is testingA Study Comparing Different Treatment Approaches for the Initiation of Puberty in Girls With Turner Syndrome Using a TRIFECTA-DARED Approach for Rare DiseasesWho this might be right forTurner Syndrome Universiti Kebangsaan Malaysia Medical Centre 24
Not applicableStudy completedNCT02874911What this trial is testingCoordination Training With Complete Body Video Games in Children and Adults With Degenerative AtaxiasWho this might be right forSpinocerebellar Ataxia University Hospital Tuebingen 10
Early research (Phase 1)Study completedNCT00004471What this trial is testingPhase I Pilot Study of Gene Therapy for Cystic Fibrosis Using Cationic Liposome Mediated Gene TransferWho this might be right forCystic Fibrosis University of Alabama at Birmingham 9