Identifying genetic causes of rare diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

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

Study contacts

• Principal investigator: Estelle COLIN, MD-PhD — escolin@chu-angers.fr
• Study coordinator: Estelle COLIN, MD-PhD
• Email: escolin@chu-angers.fr
• Phone: 02.41.35.34.70

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Program for discovering undiagnosed genetic diseases

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• Socio‑professional inclusion for young people (15–25) with childhood-onset rare genetic disabilities

  This project will try to see what makes it hard for 15–25‑year‑olds with childhood-onset rare genetic conditions to access higher education, internships, or work.

  Recruiting Imagine Institute · Paris, Île-de-France Region · NCT07527624

• Newborn whole-genome sequencing and genetic disease risk in pregnancy and early life

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• Treatment approaches for AChR-antibody positive generalized myasthenia gravis in Russia.

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  Recruiting at 7 sites AstraZeneca · Kazan' and 6 other locations · NCT07247279

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.