Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN (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.

Study Overview

• Status: Recruiting
• Conditions: Rare Diseases; Genetic Disease
• Intervention / Treatment: Procedure: Skin biopsy, blood sample, urine sample

• Study Type: Interventional
• Enrollment (Estimated): 1200
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Estelle COLIN, MD-PhD; Phone Number: 02.41.35.34.70; Email: escolin@chu-angers.fr
• Study Contact Backup: Name: Clément PROUTEAU, MSc; Email: clement.prouteau@chu-angers.fr

Study Locations

• France
  • Angers, France, 49933
    • Recruiting
    • Centre Hospitalo-Universitaire d'Angers

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Study Arm; Specific interventions: Blood samples, skin biopsy, urine collection or operational waste qualified as research sample.	Procedure: Skin biopsy, blood sample, urine sample; blood samples, urine samples, skin samples.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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
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

Collaborators and Investigators

• Sponsor: University Hospital, Angers
• Investigators: Principal Investigator: Estelle COLIN, MD-PhD, escolin@chu-angers.fr

Study record dates

Study Major Dates

• Study Start (Actual): October 10, 2022
• Primary Completion (Estimated): October 10, 2042
• Study Completion (Estimated): October 10, 2045

Study Registration Dates

• First Submitted: July 13, 2022
• First Submitted That Met QC Criteria: August 10, 2022
• First Posted (Actual): August 12, 2022

Study Record Updates

• Last Update Posted (Actual): July 18, 2025
• Last Update Submitted That Met QC Criteria: July 15, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Rare Diseases; Genetic Diseases, Inborn
• Other Study ID Numbers: 49RC22_0061

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No