Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases

Plain-language summary

This study aims to reach a diagnosis through RNA analysis (transcriptomics) of muscle biopsies in patients with rare muscle diseases who could not be diagnosed by genetic testing. It enrolls patients who had broad genetic sequencing that did not identify a variant explaining their condition and who have a muscle biopsy available. It is a non-phase study and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Recruiting

Sponsor

Assistance Publique Hopitaux De Marseille

Intervention

ARN extraction from muscle biopsies

Start date

3/1/2025

Estimated completion

3/1/2027

Countries

France

Related genes

Locations

• Marseille, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.