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 applicableUnknownNCT05411276What this trial is testingA Real-World Study of Pyrotinib Maleate in the Treatment of Advanced/Metastatic Non-Small Cell Lung Cancer With Rare Mutations in HER2Who this might be right forHER2 Mutant Non-small Cell Lung Cancer Beijing Chest Hospital 15
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 completedNCT00006137What this trial is testingPilot Study of Enalapril and Renal Function in Patients With IgA NephropathyWho this might be right forIGA Glomerulonephritis National Center for Research Resources (NCRR) 43
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 completedNCT00004329What this trial is testingStudy of Alpha-2 Adrenergic Receptor Dysfunction in Regional LipoatrophyWho this might be right forLipodystrophy National Center for Research Resources (NCRR) 12
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 applicableStudy completedNCT03563677What this trial is testingDual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare DiseasesWho this might be right forRare DiseasesOrphan Diseases Wuerzburg University Hospital 1,379
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
Not applicableStudy completedNCT02067754What this trial is testingCirculating Free DNA Analysis in Gastrointestinal Cancer, Genitourinary Cancer, Rare CancerWho this might be right forGastric Cancer Samsung Medical Center 396
Testing effectiveness (Phase 2)Study completedNCT03434418What this trial is testingA Study Osimertinib in Patients With Stage 4 Non-small Cell Lung Cancer With Uncommon EGFR MutationsWho this might be right forNon Small Cell Lung Cancer Duke University 17
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
Testing effectiveness (Phase 2)Study completedNCT00004400What this trial is testingPhase II Randomized Study of Physiologic Testosterone Replacement in Premenopausal, HIV-Positive WomenWho this might be right forHIV InfectionsCachexia Charles Drew University of Medicine and Science 56
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