Rare Diseases: all 208 studies
Page 1 of 3. Open to participants first (112), then studies with results posted, then the rest; newest registration first within each.
- Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare DiseasesRecruitingNCT07884227
- Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in FranceNot yet recruitingNCT07851844
- EpiSign International: Expanding Epigenomic Testing in Rare DiseaseNot yet recruitingNCT07839754
- Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, CanadaNot yet recruitingNCT07799792
- A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)Not yet recruitingNCT07787650Phase 1
- An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)Not yet recruitingNCT07750990Phase 2
- Real-World Effectiveness and Safety of Pegcetacoplan in Patients With C3G or IC-MPG: A Multi-Country StudyRecruitingNCT07746895Phase 4
- Impact of Ultra-fast Genetic Diagnosis of Familial Lymphohistiocytosis on the Time to Bone Marrow Transplantation and Overall SurvivalNot yet recruitingNCT07741747Not applicable
- A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi ArabiaNot yet recruitingNCT07737756
- Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich AtaxiaNot yet recruitingNCT07731971
- The Mayo Clinic Rare and Undiagnosed Disease HackathonEnrolling by invitationNCT07714161
- An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility StudyNot yet recruitingNCT07697573Not applicable
- Cannabidiol as add-on Therapy for Children With Refractory Epilepsy (CBD-uN1que), a High-quality Individualized Approach: a Series of N-of-1 TrialsRecruitingNCT07668856Phase 3
- Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X SyndromeRecruitingNCT07654114Phase 2
- AI-assisted Rare Disease DiagnosisRecruitingNCT07650799Not applicable
- Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)Enrolling by invitationNCT07560956
- Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During PregnancyRecruitingNCT07556913
- Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic DisabilityRecruitingNCT07527624
- A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare DiseasesNot yet recruitingNCT07497581
- FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot ProjectsRecruitingNCT07422454
- Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.Not yet recruitingNCT07400913
- Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.RecruitingNCT07391293
- MIHRA - Patient-Rooted Insights for Shaping Myositis Science (PRISMS)RecruitingNCT07374107
- MPN PROGRESSion Registry: Observational Study Tracking Symptoms, Treatments, and Disease Progression in People With Myeloproliferative Neoplasms (MPNs)RecruitingNCT07362225
- Stakeholders of Rare Diseases Informing Values In NeuroethicsRecruitingNCT07314736
- Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in RussiaRecruitingNCT07247279
- Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA CenterRecruitingNCT07205861
- A Study of SGT-212 Gene Therapy in Friedreich's AtaxiaRecruitingNCT07180355Phase 1
- Performance Indicators and Impact on the Care Pathway of Sequencing on the SeqOIA and AURAGEN (Seqogen) Platforms for Oncology PatientsRecruitingNCT07147465
- Channelling Algorithm Proficiency To Understand, Recognise and Elucidate DiseaseNot yet recruitingNCT07130071
- Direct to Patient Minimal Risk Biospecimen and Data Collection ResearchRecruitingNCT07128966
- A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular DystrophyRecruitingNCT07127978
- Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)RecruitingNCT07123155Phase 2
- Genetic Study to Determine the Cause of Birth Defects in Newborns in TexasRecruitingNCT07102966Not applicable
- Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare DiseasesRecruitingNCT07075107Not applicable
- Identification of Cellular Biomarkers of Rare Eye Diseases in AdultsRecruitingNCT07063719Not applicable
- Palliative Care Needs of Children With Rare Diseases and Their FamiliesEnrolling by invitationNCT06938542Not applicable
- Genomic Profiling of Genetic and Rare DiseasesRecruitingNCT06926127Not applicable
- Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)RecruitingNCT06871696
- A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's DiseaseRecruitingNCT06826612Phase 1/2
- PREcision Diagnostics in Rare GenetIC Diseases and Tumors - Long Read SequencingRecruitingNCT06796751
- Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic DiseasesEnrolling by invitationNCT06786754
- ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared CriteriaRecruitingNCT06782230
- Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding GenomesRecruitingNCT06775561
- Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease PatientsRecruitingNCT06729554Not applicable
- Implementing Dynamic Consent for Rare Disease PatientsNot yet recruitingNCT06656247
- Genetic Analysis of Uncommon Disease Presentations in Non-US PopulationsRecruitingNCT06595940
- Institutional Registry of Rare DiseasesRecruitingNCT06573723
- CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)RecruitingNCT06554275
- FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare DiseasesRecruitingNCT06539169
- A First-in-human Study of KK8123 in Adults With X-linked HypophosphatemiaRecruitingNCT06525636Phase 1/2
- Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy VolunteersRecruitingNCT06474104
- Clinical Characteristics and Analysis of Pituitary Complex and Rare DiseasesRecruitingNCT06435195
- Validation of Human Drugs Target of Repurposed Drugs and Novel TherapiesNot yet recruitingNCT06412718
- Baker Gordon Syndrome Natural History StudyRecruitingNCT06399952
- Blood Spot and Urine Metabolomic Screening Applied to Rare DiseasesRecruitingNCT06360913Not applicable
- Gait and Balance Impairment in Rare and Very Rare Neurological DiseasesRecruitingNCT06343558
- Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.RecruitingNCT06289348
- Umbrella Study for Single Patient Treatments in OncologyRecruitingNCT06285500
- Epilepsy Learning Healthcare System (ELHS)RecruitingNCT06265103
- Odevixibat Pregnancy and Lactation Surveillance Program: A Study to Evaluate the Safety of Odevixibat During Pregnancy and/or LactationRecruitingNCT06258902
- Automatic Phenotyping of Patients on 2D PhotographyRecruitingNCT06219421
- SLC13A5 Deficiency Natural History Study - United States OnlyEnrolling by invitationNCT06144957
- Structural Chromosome Rearrangements and Brain DisordersEnrolling by invitationNCT06072079
- Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History StudyRecruitingNCT06016946
- Vocal Pattern Assessment as a New Key to Identifying Rare SyndromesNot yet recruitingNCT05955794Not applicable
- Eurbio-Alport (RaDiCo Cohort) (RaDiCo Eurbio-Alport)RecruitingNCT05927467
- Acostill ( RaDiCo Cohort) (RaDiCo Acostill)RecruitingNCT05927454
- DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian DisordersRecruitingNCT05913843
- A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research InitiativesRecruitingNCT05794217
- Rare Tumours in Children and Adolescents (STEP)RecruitingNCT05773651
- Aortic Stiffness in Patients With Genetic AortopathiesRecruitingNCT05715203
- Psychological Support in Adult Patients With Marfan SyndromeRecruitingNCT05712577
- Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D AssessmentRecruitingNCT05702476
- International Rare Brain Tumor RegistryRecruitingNCT05697874
- Functional Tests to Resolve Unsolved Rare Diseases. Rares.RecruitingNCT05696912Not applicable
- Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon SyndromeRecruitingNCT05528744
- Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGINRecruitingNCT05499091Not applicable
- ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening ProgramEnrolling by invitationNCT05368038
- Longitudinal Registry Including Patients Treated With Heavy ParticlesRecruitingNCT05203250
- Swiss Rare Disease Registry (SRDR)RecruitingNCT05179863
- Solving Riddles Through SequencingRecruitingNCT05046444
- Caregiving Networks Across Disease Context and the Life CourseRecruitingNCT05007990
- A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)RecruitingNCT04998396Phase 1/2
- Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.RecruitingNCT04880356
- Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or ObesityRecruitingNCT04768803
- Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health ProgramRecruitingNCT04760522Not applicable
- Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor SyndromesRecruitingNCT04731857
- Rare and Undiagnosed Disease Research BiorepositoryEnrolling by invitationNCT04703179
- SLC13A5 Deficiency Natural History Study - Remote OnlyEnrolling by invitationNCT04681781
- Rheopheresis as Adjuvant Treatment of CalciphylaxisRecruitingNCT04654000Not applicable
- Severe Bullous Drug Eruption and FilgrastimRecruitingNCT04651439Phase 2/3
- Human Amniotic-Derived Mesenchymal Stem Cell Therapy for CalciphylaxisRecruitingNCT04592640Early Phase 1
- UW Undiagnosed Genetic Diseases ProgramRecruitingNCT04586075
- Intact Cord Resuscitation in CDHRecruitingNCT04429750Not applicable
- The ExTINGUISH Trial of Inebilizumab in NMDAR EncephalitisRecruitingNCT04372615Phase 2
- European Registry on Rare Neurological DiseasesNot yet recruitingNCT04319796
- Identification of the Genetic Causes of Rare Diseases With Negative Exome FindingsRecruitingNCT04315727Not applicable
- TEGSEDI Pregnancy Surveillance ProgramNot yet recruitingNCT04270058
- RAPA-501 Therapy for ALSRecruitingNCT04220190Phase 2/3