Research to identify 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 observational study focuses on patients with rare diseases that have unclear molecular causes. It employs advanced algorithms and statistical models to re-analyze existing genetic data, complemented by omics technologies and functional studies using patient-derived cell lines. The study also includes a trio analysis involving healthy family members to enhance the identification of de novo variants. The goal is to improve the diagnosis of hereditary diseases that have previously remained unsolved.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Persons or legal guardian who have given their written informed consent
* Unclear molecular cause of the disease corresponding to the list of diseases selected by the Solve-RD data interpretation force (principal investigator part of the team)
* Suspected genetic cause of the disease with negative exome reanalysis
* Healthy parents available for trio analysis

Exclusion Criteria:

* Person not affiliated to a national health insurance scheme

Where it's running

• CHU de Dijon
  Dijon, France Recruiting

Study contacts

• Study coordinator: Laurence OLIVIER-FAIVRE
• Email: laurence.faivre@chu-dijon.fr
• Phone: 03.80.29.53.13

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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.