NCT05499091

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 1,200 (estimated)
• Sponsor: University Hospital, Angers · Other Government
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Rare Diseases
• Genetic Disease

Interventions

Type	Name	Description
PROCEDURE	Skin biopsy, blood sample, urine sample	blood samples, urine samples, skin samples.

Timeline

• Start date: 2022-10-10
• Primary completion: 2042-10-10
• Completion: 2045-10-10
• First posted: 2022-08-12
• Last updated: 2025-07-18

Locations

1 site across 1 country: France