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.
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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

Estelle COLIN, MD-PhD

02.41.35.34.70

escolin@chu-angers.fr

CONTACT

Clément PROUTEAU, MSc

clement.prouteau@chu-angers.fr

CONTACT