Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Skin biopsy, blood sample, urine sample.
- Who it may be relevant to
- Registry conditions: Rare Diseases, Genetic Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Procedure Skin biopsy, blood sample, urine sample
blood samples, urine samples, skin samples.
Primary outcome measures
- Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies. [Time frame: 23 years]
- Collecting biological samples to build up a biobank [Time frame: 23 years]
- Candidat gene validation through functional studies. [Time frame: 23 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
France · 1 center
- Centre Hospitalo-Universitaire d'Angers — Angers
Identifiers
NCT: NCT05499091 · 49RC22_0061