Status:
RECRUITING
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Rare Diseases
Eligibility:
All Genders
Brief Summary
Most diagnostically unsolved rare disease have a genetic cause. These causes have not been found applying the current methodologies due to technical limitations (e.g. repeat expansions, changes in non...
Eligibility Criteria
Inclusion
- Persons or legal guardian who have given their written informed consent
- Unclear molecular cause of the disease corresponding to the list of diseases selected by the Solve-RD data interpretation force (principal investigator part of the team)
- Suspected genetic cause of the disease with negative exome reanalysis
- Healthy parents available for trio analysis
Exclusion
- Person not affiliated to a national health insurance scheme
Key Trial Info
Start Date :
November 14 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
May 1 2026
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT04024774
Start Date
November 14 2019
End Date
May 1 2026
Last Update
April 2 2025
Active Locations (1)
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1
CHU de Dijon
Dijon, France, 21079