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Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Sponsor: University Hospital, Angers
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
Conditions
Interventions
Skin biopsy, blood sample, urine sample
blood samples, urine samples, skin samples.
Locations (1)
Centre Hospitalo-Universitaire d'Angers
Angers, France