NCT06833489Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Source: ClinicalTrials.gov · Last updated 28 Oct 2026
Brief summary (registry, in English)
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases. The researchers hypothesise that some of these misdiagnosed patients carry pathogenic RNA (transcript) disrupting variants that were not identified by DNA sequencing. In fact, DNA sequencing analyses can be negative despite the presence of a pathogenic variant that disrupts RNA splicing or expression, causing a genetic disease. For this reason, RNA sequencing can provide a diagnosis in patients who have not been diagnosed by DNA sequencing, thus putting an end to diagnostic wandering. Thus, as a descriptive prevalence study, the objectives are first to determine the rate of positive diagnoses made by the RNAseq approach in patients with muscle diseases that have not yet been diagnosed, and then to identify the genomic characteristics of the pathogenic variants identified in patients by RNAseq analysis, in order to facilitate the identification of this type of variant in future patients. 50 patients will be included in this study during 2 years.
- Status (registry)
- Recruiting
- Study type
- Interventional
- Enrollment
- 50 (estimated)
- First submitted
- 13 Feb 2025
- Start date
- Jan 2025
- Primary completion date
- Dec 2026
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Diseases
- Duchenne muscular dystrophy, Pompe disease
- NCT number
- NCT06833489
What you commit to
- Study type: Interventional
- Planned participants: 50
- From Jan 2025 to the primary completion date, Dec 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Lab values
- 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.
Other
- Patients with no muscle biopsy available in the CRB.
- Patients with an established molecular diagnosis.
Who the study is looking for
- 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.
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hôpital Timone Coordinator of this site? Confirm its status | Marseille | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.