Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Recruiting
N/A
Interventional Study
Rare Diseases
Genetic Disease
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
At a Glance
- Sex
- Any
- Study type
- Interventional
- Purpose
- Diagnostic
- Participants needed
- 1,200 (estimated)
- Sponsor
- University Hospital, Angers · Government
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About This Trial
Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to buil…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
Patient :
* Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
* Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.
* …
Contacts