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NCT Number: NCT05499091

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

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.

Recruiting

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Key information

Conditions

Rare Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Genetic Disease Genetic Diseases, Inborn Pathologic Processes Pathological Conditions, Signs and Symptoms

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Centre Hospitalo-Universitaire d'Angers

Angers, 49933, France

Location status: Recruiting

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Skin biopsy, blood sample, urine sample

Procedure

blood samples, urine samples, skin samples.

Primary outcomes

Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.

Time frame: 23 years

Candidate genes, suspected to be responsible for rare diseases will be identified before the inclusion, during standard medical care, by exome or genome sequencing.
Collecting biological samples to build up a biobank

Time frame: 23 years

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.
Candidat gene validation through functional studies.

Time frame: 23 years

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.

Study contacts

Contact information is provided by the study sponsor or research team.

Clément PROUTEAU, MSc

CONTACT

[email protected]

Estelle COLIN, MD-PhD

CONTACT

[email protected]

02.41.35.34.70

Sponsors and collaborators

Lead sponsor

University Hospital, Angers

Other Gov

Registry information

Acronym: ORIGIN

Important dates

Study start: 2022
Primary completion: 2042
Study completion: 2045
First posted: Aug 12, 2022
Registry last updated: Jun 29, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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