Clinical trial NCT05499091: Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Official title: Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Rare Diseases
Genetic Disease
Lead sponsor: University Hospital, Angers
Sponsor class: OTHER_GOV
First posted: 2022-08-12
Enrollment: 1200
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: In addition to the standard clinical care, blood samples and/or urine samples and/or skin biopsy will be proposed to the included patient to carry out further genetic analysis.
Primary purpose: DIAGNOSTIC

Brief 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 criteria: 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

Primary outcomes:
measure: Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.
timeFrame: 23 years
measure: Collecting biological samples to build up a biobank
timeFrame: 23 years
measure: Candidat gene validation through functional studies.
timeFrame: 23 years
Secondary outcomes:
Other outcomes:
Locations:
city: Angers
country: France
facility: Centre Hospitalo-Universitaire d'Angers
Study officials:
affiliation: escolin@chu-angers.fr
name: Estelle COLIN, MD-PhD
role: PRINCIPAL_INVESTIGATOR
References: