Not applicableUnknownNCT00004342What this trial is testingInternational Registry for Severe Chronic NeutropeniaWho this might be right forNeutropenia National Center for Research Resources (NCRR) 1,000
Testing effectiveness (Phase 2)Active Not RecruitingNCT04931342What this trial is testingA Study Evaluating the Efficacy and Safety of Biomarker-Driven Therapies in Patients With Persistent or Recurrent Rare Epithelial Ovarian TumorsWho this might be right forOvarian Cancer Hoffmann-La Roche 176
Not applicableStudy completedNCT06957054What this trial is testingNeural Biomarkers in Fragile X SyndromeWho this might be right forFragile X Syndrome (FXS)Neurotypical Adults Connecta Therapeutics, S.L. 20
Not applicableStudy completedNCT00004296What this trial is testingMulticenter Study of Nontuberculous Mycobacteria in Cystic Fibrosis PatientsWho this might be right forCystic FibrosisAtypical Mycobacterium Infection National Center for Research Resources (NCRR) 1,000
Testing effectiveness (Phase 2)Study completedNCT00004288What this trial is testingPhase II Pilot Study of Olsalazine for Ankylosing SpondylitisWho this might be right forAnkylosing Spondylitis National Center for Research Resources (NCRR) 4
Not applicableNot Yet RecruitingNCT07839754What this trial is testingEpiSign International: Expanding Epigenomic Testing in Rare DiseaseWho this might be right forRare DiseaseUndiagnosed DiseaseGenetic Diseases, Inborn+1 more University of Manchester 192
Not applicableStudy completedNCT04609085What this trial is testingSARS-COV2 Pandemic Serosurvey in a Rare Disease PopulationWho this might be right forSARS-COV2 Virus National Institute of Allergy and Infectious Diseases (NIAID) 730
Not applicableStudy completedNCT02814747What this trial is testingEvaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic PurposesWho this might be right forRare Diseases Centre Hospitalier Universitaire Dijon 530
Not applicableLooking for participantsNCT06324136What this trial is testingValidation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney DiseasesWho this might be right forChronic Kidney Diseases Meyer Children's Hospital IRCCS 300
Not applicableUnknownNCT05026892What this trial is testingIdentification of Factors Associated With the Occurrence of Severe Forms of COVID-19 Infection in Patients With Inflammatory Rheumatism or Autoimmune DiseasesWho this might be right forSARS-CoV2 InfectionRare DiseasesChronic Inflammatory Rheumatism+1 more Assistance Publique - Hôpitaux de Paris 1,200
Not applicableUnknownNCT05696912What this trial is testingFunctional Tests to Resolve Unsolved Rare Diseases. Rares.Who this might be right forIntellectual DisabilityRubinstein-Taybi SyndromeCystic Fibrosis+4 more University Hospital, Bordeaux 50
Not applicableStudy completedNCT03813667What this trial is testingPalliative Care Coaching for Families With Rare Advanced Lung DiseasesWho this might be right forLung DiseasesRare Non-Neoplastic Disorder West Virginia University 35
Not applicableUnknownNCT00005900What this trial is testingStudy of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationWho this might be right forI Cell DiseaseFucosidosisGloboid Cell Leukodystrophy+9 more Fairview University Medical Center 10
Testing effectiveness (Phase 2)Study completedNCT00004448What this trial is testingAlternate Day Prednisone or Daily Fish Oil Supplements in Patients With Immunoglobulin A NephropathyWho this might be right forIgA Glomerulonephritis National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) 96
Not applicableUnknownNCT03873285What this trial is testingMethod of Genetic Analysis in GenodermatosesWho this might be right forGenodermatosisRare Genetic Disease With Cutaneous Expression Queen Fabiola Children's University Hospital 100
Early research (Phase 1)Looking for participantsNCT07180355What this trial is testingSGT-212 Gene Therapy in Friedreich's AtaxiaWho this might be right forFriedreich's Ataxia (FA) Solid Biosciences Inc. 10
Testing effectiveness (Phase 2)UnknownNCT05659368What this trial is testingTirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1Who this might be right forWolfram Syndrome Ospedale San Raffaele 10
Not applicableStudy completedNCT02481817What this trial is testingTreatment Alternatives in iSGS (NoAAC PR-02 Study)Who this might be right forIdiopathic Subglottic Stenosis (iSGS) Vanderbilt University Medical Center 1,239
Not applicableStudy completedNCT04926129What this trial is testingNatural History of the Progression of X-Linked Retinitis PigmentosaWho this might be right forX-Linked Retinitis Pigmentosa NightstaRx Ltd, a Biogen Company 201
Not applicableLooking for participantsNCT07769346What this trial is testingThe Appendix Cancer PMP Research Foundation Natural History Study/Patient RegistryWho this might be right forAppendix CancerPseudomyxoma Peritonei Appendix Cancer Pseudomyxoma Peritonei Research Foundation 10,000