Using RNA analysis to improve diagnosis in patients with rare muscle diseases
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
This study is testing if analyzing RNA from muscle samples can help doctors better diagnose patients with rare muscle diseases who have previously received negative DNA test results.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | Assistance Publique Hopitaux De Marseille Academic / other |
| Locations | 1 site (Marseille) |
| Trial ID | NCT06833489 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients with rare genetic muscle diseases who have undergone high-throughput sequencing but have not received a definitive diagnosis.
Not a fit: Patients with an established molecular diagnosis or those without a suitable muscle biopsy will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to accurate diagnoses for patients with rare muscle diseases who have previously been misdiagnosed.
How similar studies have performed: While RNA sequencing is a promising approach, the success of similar studies in this specific context remains to be fully established.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Marseille
- Hopital Timone — Marseille, France (Recruiting)
Study contacts
- Study coordinator: Svetlana GOROKHOVA Dr
- Email: promotion.interne@ap-hm.fr
- Phone: +33491381927
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.