Actively Recruiting
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Led by University Hospital, Angers · Updated on 2025-07-18
1200
Participants Needed
1
Research Sites
1200 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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 build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.
CONDITIONS
Official Title
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Child or adult affected by a rare disease whose molecular functions are not known or whose pathophysiologic mechanisms are not fully understood
- Patient included in the BaMaRa (French rare disease national data bank) database
- Patient affiliated to the French social security system
- Patient consent form or legal representative consent form obtained
- Parent of a patient affected by a rare disease whose molecular functions are not known or whose pathophysiologic mechanisms are not fully understood
- Parent included in the BaMaRa database
- Parent affiliated to the French social security system
- Parent consent form obtained for himself/herself
- Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known or whose pathophysiologic mechanisms are not fully understood
- Brother or sister included in the BaMaRa database
- Brother or sister affiliated to the French social security system
- Brother or sister consent form obtained for themselves or from their legal representative
You will not qualify if you...
- Poor understanding of the French language
- Legal or administrative liberty deprivation
- Psychiatric force care
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Centre Hospitalo-Universitaire d'Angers
Angers, France, 49933
Actively Recruiting
Research Team
E
Estelle COLIN, MD-PhD
CONTACT
C
Clément PROUTEAU, MSc
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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