Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Genetic Disease Clinical Trial

— ORIGIN  

Official title:

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05499091
• Other study ID #: 49RC22_0061
• Status: Recruiting
• Phase: N/A
• Start date: October 10, 2022
• Est. completion date: October 10, 2045

Study information

• Verified date: March 2024
• Source: University Hospital, Angers
• Contact: Estelle COLIN, MD-PhD
• Phone: 02.41.35.34.70
• Email: escolin[@]chu-angers.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1200
• Est. completion date: October 10, 2045
• Est. primary completion date: October 10, 2042
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.
• 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.

Exclusion Criteria:

• Poor understanding of the French language
• Legal of administrative liberty deprivation
• Psychiatric force care

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn
• Rare Diseases

Intervention

Procedure:
• Skin biopsy, blood sample, urine sample
blood samples, urine samples, skin samples.

Locations

Country	Name	City	State
France	Centre Hospitalo-Universitaire d'Angers	Angers

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Angers

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.	Candidate genes, suspected to be responsible for rare diseases will be identified before the inclusion, during standard medical care, by exome or genome sequencing.	23 years
Primary	Collecting biological samples to build up a biobank	After a candidat gene identification, patient will be proposed sampling (blood or urine) or if a skin biopsy, an amniotic fluid puncture or any surgery are done during standard care, the remaing tissue or fluid, or operative wastes will be eligible too, to be stored in the biobank.	23 years
Primary	Candidat gene validation through functional studies.	Biological samples from the biobank will be made available after the study, to some specialized research teams, in order to validate or overturn those previously gene candidates by the way of some biological technics.	23 years