Disease landscape

Rare Disease clinical trials

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59 active trials 43 recruiting 40 sponsors 5 changes in 30 days

Data updated daily from ClinicalTrials.gov, last refresh 2026-08-28

What changed in the last 30 days

2026-07-31
Trial terminated
Trial terminated: The single participant died on 31 March 2025 from thrombotic microangiopathy, a serious adverse event assessed as defin...
Completion moved earlier: 2025-09 → 2025-03-31
NCT06860672 Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W… · Yongguo Yu · Early Phase 1
2026-08-28
Primary completion pushed: 2026-08-30 → 2027-03-01
Completion pushed: 2026-08-30 → 2027-03-01
NCT06782230 ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and… · IRCCS Policlinico S. Donato

New sponsor entrants, last 90 days sponsors with their first trial in this area

First postedTrialSponsorPhase
2026-07-20 NCT07714161 The Mayo Clinic Rare and Undiagnosed Disease Hackathon Mayo Clinic new
2026-06-23 NCT07662694 CLASSIFY-OMM: Multicenter Rare Disease Cohort for T-Stage Reclassification and Molecular… Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University new
2026-06-04 NCT07625436 Artificial Intelligence for Rare Disease Diagnosis Peking Union Medical College Hospital new

Active trials by phase

Phase 2/3
1
Not charted: 58 active trials with no phase listed on ClinicalTrials.gov (typically behavioural, device, procedure and observational studies).

Active trials top 25 of 59

NCT IDTitleSponsorStatusUpdated
Phase 2/3
NCT06721871 Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion… Napo Pharmaceuticals, Inc. Active, Not Recruiting 2026-06-09
Not applicable
NCT06729554 Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among… Medical University of Vienna Recruiting 2026-07-28
NCT07063719 Identification of Cellular Biomarkers of Rare Eye Diseases in Adults Institut National de la Santé Et de la Recherche Médicale, France Recruiting 2026-07-07
NCT05499091 Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN University Hospital, Angers Recruiting 2026-06-29
NCT04429750 Intact Cord Resuscitation in CDH University Hospital, Lille Recruiting 2026-05-20
NCT06856902 BEhavioral and Adherence Model for Improving Quality, Health Outcomes and… Technical University of Madrid Recruiting 2026-04-01
NCT04654000 Rheopheresis as Adjuvant Treatment of Calciphylaxis University Hospital, Lille Recruiting 2026-02-12
NCT07102966 Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas Baylor College of Medicine Recruiting 2026-01-27
NCT06926127 Genomic Profiling of Genetic and Rare Diseases Fondazione Policlinico Universitario Agostino Gemelli IRCCS Recruiting 2025-04-13
NCT06360913 Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases Cliniques universitaires Saint-Luc- Université Catholique de Louvain Recruiting 2024-04-12
NCT04760522 Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic… University Hospital Tuebingen Recruiting 2023-11-29
NCT07650799 AI-assisted Rare Disease Diagnosis Peking Union Medical College Hospital Not Yet Recruiting 2026-07-31
NCT07625436 Artificial Intelligence for Rare Disease Diagnosis Peking Union Medical College Hospital Not Yet Recruiting 2026-06-04
Not specified
NCT03854318 Longitudinal Studies of Patient With FPDMM National Human Genome Research Institute (NHGRI) Recruiting 2026-08-27
NCT06595940 Genetic Analysis of Uncommon Disease Presentations in Non-US Populations National Human Genome Research Institute (NHGRI) Recruiting 2026-08-27
NCT06782230 ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and… IRCCS Policlinico S. Donato Recruiting 2026-08-27
NCT07247279 Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized… AstraZeneca Recruiting 2026-08-12
NCT06875089 A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in… Centre Hospitalier Universitaire Dijon Recruiting 2026-06-17
NCT06399952 Baker Gordon Syndrome Natural History Study University of Missouri-Columbia Recruiting 2026-06-03
NCT04586075 UW Undiagnosed Genetic Diseases Program University of Wisconsin, Madison Recruiting 2026-05-29
NCT02397824 Orodental Manifestations of Rare Diseases University Hospital, Strasbourg, France Recruiting 2026-05-15
NCT04731857 Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and… University Hospital Tuebingen Recruiting 2026-05-04
NCT07527624 Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare… Imagine Institute Recruiting 2026-04-14
NCT02743845 Gene Discovery Core, The Manton Center Boston Children's Hospital Recruiting 2026-03-25
NCT06573723 Institutional Registry of Rare Diseases Hospital Italiano de Buenos Aires Recruiting 2026-01-14
See all 59 active Rare Disease trials with filters →

Top sponsors by active trials in this area

IRCCS Policlinico S. Donato (7) · University Hospital Tuebingen (4) · Centre Hospitalier Universitaire Dijon (3) · Assistance Publique - Hôpitaux de Paris (2) · Fondazione Policlinico Universitario Agostino Gemelli IRCCS (2) · Imagine Institute (2) · Mayo Clinic (2) · National Human Genome Research Institute (NHGRI) (2) · Peking Union Medical College Hospital (2) · TESS Research Foundation (2)

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