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

Launched by ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE · Feb 17, 2025

Keywords

ClinConnect Summary

This clinical trial is focused on improving the diagnosis of rare genetic muscle diseases, such as Duchenne and Becker muscular dystrophies, congenital myopathy, and Pompe disease. Researchers believe that some patients who have been misdiagnosed may have harmful RNA changes that were missed by traditional DNA testing. By using a method called RNA sequencing, the study aims to find out how many patients can receive a correct diagnosis and to better understand the genetic changes that cause these diseases. This could help end the frustration of not knowing what’s causing a patient’s symptoms.

To participate in this study, patients must have a rare genetic muscle disease and have previously undergone a comprehensive genetic test that did not find a clear cause for their condition. Additionally, researchers need access to a muscle biopsy sample from these patients. The study will include around 50 participants over two years. Those who join can expect to undergo RNA testing, which may provide answers that previous tests could not. This research is important because it could lead to better diagnosis and treatment options for individuals suffering from these challenging muscle diseases.

Gender

ALL

Eligibility criteria

• 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.