Identifying genetic causes of rare diseases

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

This study is trying to find out if certain genetic changes are linked to rare diseases by looking at samples from patients whose conditions are not well understood.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 1200 (estimated)
• Sex: All
• Sponsor: University Hospital, Angers (Government)
• Locations: 1 site (Angers)
• Trial ID: NCT05499091 on ClinicalTrials.gov

What this trial studies

This study utilizes next generation sequencing (NGS) to identify genetic variants associated with rare diseases that are not yet fully understood. By collecting biological samples such as skin biopsies, blood, and urine, the study aims to confirm the relationship between these genetic variants and the clinical manifestations of the diseases. The research focuses on patients whose molecular functions are unknown, contributing to a better understanding of rare genetic conditions. The findings could lead to improved diagnostics and potential therapeutic strategies for affected individuals.

Who should consider this trial

Good fit: Ideal candidates include children and adults with rare diseases whose molecular mechanisms are not fully understood and who are part of the BaMaRa database.

Not a fit: Patients with well-characterized rare diseases or those whose molecular functions are already known may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance the understanding and diagnosis of rare genetic diseases, leading to better patient management.

How similar studies have performed: Other studies utilizing next generation sequencing for rare diseases have shown promise, indicating that this approach is both relevant and potentially effective.

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

Where this trial is running

Angers

• Centre Hospitalo-Universitaire d'Angers — Angers, France (Recruiting)

Study contacts

• Principal investigator: Estelle COLIN, MD-PhD — [e-mail]
• Study coordinator: Estelle COLIN, MD-PhD

Conditions Rare Diseases; Genetic Disease