Rare Diseases: all 208 studies
Page 2 of 3. Open to participants first (112), then studies with results posted, then the rest; newest registration first within each.
- Genetic Causes of Discrepant Clinic in Monogenic TwinsRecruitingNCT04046796
- Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare DiseasesRecruitingNCT04024774
- Longitudinal Studies of Patient With FPDMMRecruitingNCT03854318
- Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare DiseasesRecruitingNCT03491280
- Evaluation of HEArt invoLvement in Patients With FABRY DiseaseRecruitingNCT03362164
- Gene Discovery Core, The Manton CenterRecruitingNCT02743845
- Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)RecruitingNCT02543996
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases NetworkRecruitingNCT02450851
- Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
- Idiopathic Diseases of ManEnrolling by invitationNCT01440218
- Evaluation of an Advanced Lower Extremity NeuroprosthesesRecruitingNCT00623389Not applicable
- Diagnosis and Treatment of Patients With Inborn Errors of MetabolismRecruitingNCT00369421
- Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric PatientsCompletedNCT05612139Results posted
- A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)CompletedNCT05358717Phase 2Results posted
- FACE for Children With Rare DiseasesCompletedNCT04855734Not applicableResults posted
- A Study to Evaluate Emapalumab in Japanese Healthy Volunteers.CompletedNCT04765553Phase 1Results posted
- Audiovestibular Function in Infratentorial Superficial SiderosisCompletedNCT04200664Results posted
- A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and TemozolomideTerminatedNCT03495921Phase 3Results posted
- Assessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanCompletedNCT02985710Not applicableResults posted
- Phase II Study of Alendronate Sodium in Children With High-Turnover Idiopathic Juvenile OsteoporosisCompletedNCT00010439Phase 2Results posted
- Artificial Intelligence for General and Rare Disease DiagnosisCompletedNCT07625436Not applicable
- A Multi-Dimensional Model of cAre and transItion for Patients With cOmplex RAre DiseasesActive, not recruitingNCT07558213
- Evaluating Legit.Health Plus Support for Improving Diagnosis of Generalized Pustular Psoriasis and Other Skin Conditions Among Primary Care Physicians and DermatologistsCompletedNCT07428915
- Epidemiological Study of Treatment Approaches on AQP4-IgG Positive NMOSD in RussiaTerminatedNCT07247292
- Ready to Sail 2: A Pilot Study of Sail-Assisted Telerehabilitation in Rare Skeletal DiseasesCompletedNCT07102875Not applicable
- The Belgian Genome Resource to Resolve Rare DiseasesCompletedNCT07051213Not applicable
- Simulated and Synthetic Health Data: Improving Clinical Research on Rare Diseases. A Real-World Data Simulation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) Trials. A Retrospective, Observational StudyActive, not recruitingNCT07016282
- Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W MutationTerminatedNCT06860672Early Phase 1
- BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaReCompletedNCT06856902Not applicable
- Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)Active, not recruitingNCT06809049Not applicable
- Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID)Active, not recruitingNCT06721871Phase 2/3
- Real-World Evidence of Effectiveness and Safety of Tirabrutinib in Patients With Relapsed or Refractory Primary Central Nervous System Lymphoma in Taiwan: A Nationwide StudyCompletedNCT06714370
- Evaluation of the French Version of the PEERS Social Skills Training Program for Adolescents With Rare Neurodevelopmental DisordersCompletedNCT06612333
- Understanding the Natural History Early in the Course or Presentation of Friedreich AtaxiaWithdrawnNCT06560346
- Rare Group Problem Management PlusCompletedNCT06548022Not applicable
- Using Social Robots in Children With Rare Diseases and Their Parents: A Feasibility StudyCompletedNCT06466109Not applicable
- Fluoxetine in KCNC1-related DisorderCompletedNCT06341127Not applicable
- An Extension Study to Evaluate the Long-Term Safety and Efficacy of Votoplam in Participants With Huntington's Disease (HD)Active, not recruitingNCT06254482Phase 2
- A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 PatientsWithdrawnNCT06227429
- Characterization and Recognition of Genetic Diseases by PhotographyCompletedNCT06225141
- RAPA-501 Therapy of ALS Expanded Access ProtocolTemporarily not availableNCT06169176
- Utility and Validation's Study of a Smartphone Application for Periodic ParalysisTerminatedNCT05976958
- Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)CompletedNCT05908656Not applicable
- Cannabidiol in Children and Young Adults With Rare Disease-associated Severe EpilepsyActive, not recruitingNCT05803434Phase 2
- Marfan Syndrome and Quality of Life of Pediatric PatientsActive, not recruitingNCT05748314
- Analysis of Muscular Properties in Patients With MFS and EDSCompletedNCT05720923
- Fatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: SurveyCompletedNCT05712564
- Investigation of the Neurovegetative Pattern in Patients With Thoracic Aortic Aneurysms (TAA)Active, not recruitingNCT05703893
- Personalized Therapy of Patients Suffering From Rare GenodermatosesStatus unknownNCT05680974
- A Lifecourse Map of Diseases in ChinaStatus unknownNCT05612230
- Colombia National Porphyria RegistryStatus unknownNCT05496933
- Verification of the Epidemiology and Mortality of Rare Diseases in Taiwan With Real-world EvidenceCompletedNCT05367115
- Study of the Pronostic Impact of Immunohistochemical, Histological and Radiological Factors in Patients With Primary Central Nervous System Lymphoma.Status unknownNCT05347511
- Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in Pediatric Intensive Care in BelgiumStatus unknownNCT05337462
- Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare DiseasesCompletedNCT05199402
- Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative ApproachCompletedNCT05070988
- Identification of Factors Associated With the Occurrence of Severe Forms of COVID-19 Infection in Patients With Inflammatory Rheumatism or Autoimmune DiseasesStatus unknownNCT05026892
- Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe DiseaseSuspendedNCT04771416Phase 1/2
- Getting Global Rare Disease Insights Through Technology StudyStatus unknownNCT04758130Not applicable
- Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 GangliosidosisActive, not recruitingNCT04713475Phase 1/2
- ERN ReCONNET Study on COVID-19 Vaccination in Rare and Complex Connective Tissue Disease (VACCINATE)Status unknownNCT04702295
- SARS-COV2 Pandemic Serosurvey in a Rare Disease PopulationCompletedNCT04609085
- COV2Base-A Rare Disease by COVID StudyCompletedNCT04564274
- Medication Adherence and Non-adherence in Adults With Rare DiseaseWithdrawnNCT04541875
- COVID-19 and Rare Skin Diseases European Observational Study During an EpidemicStatus unknownNCT04451902
- Burosumab in Children and Adolescents With X-linked HypophosphatemiaStatus unknownNCT04419363Phase 4
- Psychosocial Situation of Children With Rare (Congenital) Pediatric Surgical Diseases and Their FamiliesCompletedNCT04382820
- Children Affected by Rare Disease and Their Families NetworkStatus unknownNCT04339465Not applicable
- Mackenzie's Mission: The Australian Reproductive Carrier Screening ProjectCompletedNCT04157595Not applicable
- Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual DisabilityCompletedNCT04154891Not applicable
- Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic PowerStatus unknownNCT04152876
- Natural History Study of Patients With Canavan Disease (CANinform Study)CompletedNCT04126005
- Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read GenomicsCompletedNCT03962452Not applicable
- Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"CompletedNCT03954652Not applicable
- MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational StudyStatus unknownNCT03683966
- Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of FamiliesCompletedNCT03680365
- Italian Angelman Syndrome RegistryCompletedNCT03650569
- Study of A166 in Patients With Relapsed/Refractory Cancers Expressing HER2 Antigen or Having Amplified HER2 GeneCompletedNCT03602079Phase 1/2
- Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare DiseasesCompletedNCT03563677Not applicable
- Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in ChinaStatus unknownNCT03424772
- The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran CareCompletedNCT03380819Not applicable
- Kidney Information Network for Disease Research and EducationTerminatedNCT03321604
- NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and InfantsCompletedNCT03290469Not applicable
- Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare DiseasesStatus unknownNCT03199001
- Rare Diseases Clinical Research Network: Neurophysiological CorrelatesCompletedNCT03077308
- Durvalumab in Combination With Tremelimumab in Subjects With Advanced Rare Solid TumorsTerminatedNCT02938793Phase 2
- Nivolumab and Ipilimumab in Treating Patients With Rare TumorsActive, not recruitingNCT02834013Phase 2
- Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic PurposesCompletedNCT02814747Not applicable
- Validation of the Utility of Rare Disease Intelligence PlatformCompletedNCT02748044Not applicable
- Pbi-shRNA™ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's SarcomaCompletedNCT02736565Phase 1
- Motherhood With MOtor Impairment Due to MAlady (Rare Disease)CompletedNCT02727010
- Finding Genes for Rare DiseasesWithdrawnNCT02724995
- Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue BankCompletedNCT02706639
- Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare DiseasesStatus unknownNCT02588638
- Pregnancy and Medically Assisted Conception in Rare DiseasesWithdrawnNCT02450396
- Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical ConditionsStatus unknownNCT02365376
- Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995CompletedNCT02116764
- An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 PatientNo longer availableNCT02097251
- Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRDStatus unknownNCT02034630Phase 1/2
- Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))CompletedNCT01880983