Undiagnosed Diseases clinical trials
The registry lists 20 studies for Undiagnosed Diseases across 6 countries. 13 are recruiting or about to start. 6 of them are mainly about Undiagnosed Diseases (how this is decided). Per ClinicalTrials.gov, last updated 2026-11-12.
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Example · made-up studies
Breast cancer · Recruiting: 2 came in, 3 changed
What changed in your saved searches, Oct 31 – Nov 6:
A study of drug A after surgery for early breast cancer
Came in · now Recruiting
Drug B with hormone therapy in advanced breast cancer
Changed
· Sites: 4 added, including Seoul and Busan
· Enrollment: 300 → 450 participants
Exercise during chemotherapy
Now Active, not recruiting
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Status
Who runs them
National Human Genome Research Institute (NHGRI) (6) · Mayo Clinic (3) · National Heart, Lung, and Blood Institute (NHLBI) (2) · Wayne State University (1) · University of Manchester (1) · University of Pittsburgh (1) · University of Wisconsin, Madison (1) · Baylor Research Institute (1)
Coming up
Studies recruiting or running, from their records. “Main data collection” ends at the primary completion date, the sponsor’s own estimate, which often moves.
All 4
- Nov 2026Research for Individualized Therapeutics in Rare Genetic Disease · Mayo Clinic
- Nov 2026Rare and Undiagnosed Disease Research Biorepository · Mayo Clinic
- Aug 2027The Mayo Clinic Rare and Undiagnosed Disease Hackathon · Mayo Clinic
- Nov 2027Vascular Disease Discovery Protocol · National Heart, Lung, and Blood Institute (NHLBI)
Who these studies take
Of the 8 Undiagnosed Diseases studies recruiting now, 1 (13%) set no upper age limit and 0 (0%) stop at 75 or younger. 6 (75%) take children under 18. 0 (0%) are for women only and 0 (0%) for men only; 5 (63%) take healthy volunteers.
| Age | Women | Men |
|---|---|---|
| 10 | 6 (75%) | 6 (75%) |
| 18 | 8 (100%) | 8 (100%) |
| 30 | 8 (100%) | 8 (100%) |
| 40 | 8 (100%) | 8 (100%) |
| 50 | 8 (100%) | 8 (100%) |
| 65 | 8 (100%) | 8 (100%) |
| 75 | 8 (100%) | 8 (100%) |
| 85 | 8 (100%) | 8 (100%) |
Across all 20 studies, recruiting or not: 10% stop at 75 or younger and 5% at 65; 55% take children; 0% are for women only and 0% for men only; 50% take healthy volunteers. From each study’s registry entry; the criteria on its page decide.
Studies
Recruiting first, then most recently updated. Showing 20 of 20. search them.
- Genetic Analysis of Uncommon Disease Presentations in Non-US PopulationsRecruitingNCT065959401 country
- Vascular Disease Discovery ProtocolRecruitingNCT035386391 country
- Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.RecruitingNCT048803561 country
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases NetworkRecruitingNCT024508511 country
- Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)RecruitingNCT025439961 country
- The Mayo Clinic Rare and Undiagnosed Disease HackathonEnrolling by invitationNCT077141611 country
- EpiSign International: Expanding Epigenomic Testing in Rare DiseaseNot yet recruitingNCT078397541 country
- Caregiving Networks Across Disease Context and the Life CourseRecruitingNCT050079901 country
- UW ISeqU: Clinical Impact of Whole-genome Sequencing in AdultsEnrolling by invitationNCT077189711 country
- UW Undiagnosed Genetic Diseases ProgramRecruitingNCT045860751 country
- Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain CommunityRecruitingNCT029271581 country
- Research for Individualized Therapeutics in Rare Genetic DiseaseEnrolling by invitationNCT052365951 country
- Rare and Undiagnosed Disease Research BiorepositoryEnrolling by invitationNCT047031791 country
- The Role of Uncertainty in Coping: The Experience of Parents of Children With Undiagnosed Medical ConditionsCompletedNCT019058651 country
- Inherited Diseases, Caregiving, and Social NetworksCompletedNCT014982631 country
- A Pivotal Clinical Investigation Confirming the Safety and Accuracy of the Glyconics-DS in Assessment of Glycated Nail Keratin in Individuals With Unknown Diabetes Status and Performance Evaluation of the Glyconics SW PackageCompletedNCT06261944Not applicable1 country
- Quebec Lung Cancer Screening PLUS TrialActive, not recruitingNCT05444062Not applicable1 country
- Project 1: ACHIEVE- HTNTerminatedNCT05295758Not applicable1 country
- Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome SequencingCompletedNCT036050041 country
- Natural History of the LeukodystrophiesCompletedNCT028435551 country