Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- You have been diagnosed with a rare genetic muscle disease and have already had a specialist genetic test (looking at a panel of 200 genes through the FILNEMUS network) carried out at the Molecular Genetics Laboratory at Timone Enfant Hospital since 2017.
- That genetic test did not find a clear genetic cause to explain your muscle condition.
- A sample of your muscle tissue (biopsy) is already stored at the AP-HM Biological Resources Centre.
Who may not be able to join:
- You do not have a muscle tissue sample (biopsy) stored at the AP-HM Biological Resources Centre.
- A genetic cause for your muscle condition has already been found and confirmed.
- The muscle tissue sample cannot produce a good enough quality of RNA (a biological material needed for testing) after up to two attempts at extraction (confirm with trial site).
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Phone: +33491381927
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
rate of positive diagnoses using the RNAseq approach
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.