RecruitingNot ApplicableNCT05499091

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Sponsor

University Hospital, Angers

Enrollment

1,200 participants

Start Date

Oct 10, 2022

Study Type

INTERVENTIONAL

Conditions

Genetic Disease Rare Diseases

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.

Eligibility

Inclusion Criteria15

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.
Patient Affiliated to the French social security system.
Patient consent form or legal representative consent form obtained.
Patient's parent :
Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism 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.
Patient's brother or sister :
Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism 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.