Status:
RECRUITING
Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Rare Diseases of Genetic Origin
Rare Forms of Common Diseases Suspected of Being Genetic in Origin
Eligibility:
All Genders
Brief Summary
Rare diseases are conditions affecting a small number of people, requiring specific and often multidisciplinary medical care. There are over 7,000 rare diseases, around 80% of which are genetic in ori...
Eligibility Criteria
Inclusion
- Patients (children or adults) with a suspected rare disease (or rare form of a common disease) of genetic origin for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.
- OR
- Foetuses with developmental abnormalities for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.
- OR
- Apparently healthy relatives or controls AND
- Consent of the patient or his/her legal representative
- Suitable level of understanding
Exclusion
- Patients without national health insurance cover
Key Trial Info
Start Date :
March 13 2017
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2027
Estimated Enrollment :
850 Patients enrolled
Trial Details
Trial ID
NCT03287193
Start Date
March 13 2017
End Date
December 1 2027
Last Update
December 8 2025
Active Locations (1)
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1
Chu Dijon Bourogne
Dijon, France, 21000