Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN (NCT05499091) | Clinical Trial Compass
RecruitingNot Applicable
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
France1,200 participantsStarted 2022-10-10
Plain-language 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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.
Timeframe: 23 years
2
Collecting biological samples to build up a biobank
Timeframe: 23 years
3
Candidat gene validation through functional studies.