Using RNA analysis to improve diagnosis in patients with rare muscle 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 aims to address the issue of misdiagnosis in patients with rare genetic muscle diseases by utilizing RNA sequencing to identify pathogenic variants that may have been missed by traditional DNA sequencing. Since 2017, over 250 patients have undergone genetic analysis at the Timone Enfant Hospital, many of whom remain undiagnosed despite negative DNA results. By extracting RNA from muscle biopsies, the researchers hope to determine the prevalence of positive diagnoses through this method and characterize the genomic features of the identified variants. This approach seeks to provide clarity and end the diagnostic uncertainty faced by these patients.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* patients with rare genetic muscle diseases who have benefited from high-throughput sequencing analysis (panel of 200 genes defined by the FILNEMUS Rare Neuromuscular Disease Network) carried out at the Molecular Genetics Laboratory, Medical Genetics Department, Timone Enfant Hospital since 2017.

This criterion is necessary to limit the analysis to patients with muscular diseases among all the patients analysed by the Molecular Genetics Laboratory.

* this genetic analysis did not identify pathogenic variants explaining the patient's phenotype This criterion is necessary in order to include only patients in diagnostic error.
* a muscle biopsy of the patient is available in the Biological Resources Centre (CRB) at the AP-HM.

Exclusion Criteria:

* Patients with no muscle biopsy available in the CRB.
* Patients with an established molecular diagnosis.
* Patients for whom RNA extraction from a muscle biopsy sample did not yield RNA of sufficient quality (INR \>7) will be excluded from the study. A maximum of two extraction attempts will be performed.

Where it's running

• Hopital Timone
  Marseille, France Recruiting

Study contacts

• Study coordinator: Svetlana GOROKHOVA Dr
• Email: Svetlana.GOROKHOVA@ap-hm.fr
• Phone: +33491381927

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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.