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Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN | Clinical Trials | Clareo Health

RECRUITINGNA

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

NCT05499091•University Hospital, Angers

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

Age

All ages

Sex

ALL

Healthy Volunteers

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.
+5 more criteria

Exclusion Criteria

•Poor understanding of the French language
•Legal of administrative liberty deprivation
•Psychiatric force care

Locations (1)

Centre Hospitalo-Universitaire d'Angers

Angers, France

Key Dates

Start Date

October 10, 2022

Primary Completion Date

October 10, 2042

Completion Date

October 10, 2045

Last Updated

July 18, 2025

Enrollment

1,200

ESTIMATED participants

Conditions

Rare DiseasesGenetic Disease

Interventions

Skin biopsy, blood sample, urine sample

PROCEDURE

Contacts

Estelle COLIN, MD-PhD

CONTACT

02.41.35.34.70 escolin@chu-angers.fr

Clément PROUTEAU, MSc

CONTACT

clement.prouteau@chu-angers.fr

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: July 18, 2025Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Inclusion Criteria

Exclusion Criteria

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia

Natural History of Type 1 Interferonopathies: Insights From a European Cohort

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

Institutional Registry of Rare Diseases

Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions