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RECRUITING
NCT05499091
NA

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Sponsor: University Hospital, Angers

View on ClinicalTrials.gov

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.

Key Details

Gender

All

Age Range

Any - Any

Study Type

INTERVENTIONAL

Enrollment

1200

Start Date

2022-10-10

Completion Date

2045-10-10

Last Updated

2025-07-18

Healthy Volunteers

No

Interventions

PROCEDURE

Skin biopsy, blood sample, urine sample

blood samples, urine samples, skin samples.

Locations (1)

Centre Hospitalo-Universitaire d'Angers

Angers, France