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Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN — ORIGIN  

Genetic Disease Clinical Trial

Official title:
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Clinical Trial Summary

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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT05499091
Study type Interventional
Source University Hospital, Angers
Contact Estelle COLIN, MD-PhD
Phone 02.41.35.34.70
Email escolin@chu-angers.fr
Status Recruiting
Phase N/A
Start date October 10, 2022
Completion date October 10, 2045
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