Last reviewed · How we verify
NCT06833489: ARNseq-Musc
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
NA trial testing ARN extraction from muscle biopsies in Rare Genetic Muscle Diseases in 50 participants. Currently enrolling.
1 September 2026
Quick facts
| Lead sponsor | Assistance Publique Hopitaux De Marseille |
|---|---|
| Phase | NA |
| Status | Recruiting now |
| Study type | INTERVENTIONAL |
| Allocation | na |
| Design | single group |
| Masking | none |
| Primary purpose | diagnostic |
| Enrollment | 50 |
| Start date | 1 March 2025 |
| Primary completion | 1 September 2026 |
| Estimated completion | 1 March 2027 |
| Sites | 1 location across France |
Drugs / interventions tested
- ARN extraction from muscle biopsies
Conditions studied
- Rare Genetic Muscle Diseases — all drugs for Rare Genetic Muscle Diseases →
- Muscular Dystrophy, Duchenne — all drugs for Muscular Dystrophy, Duchenne →
- Muscular Dystrophy, Becker — all drugs for Muscular Dystrophy, Becker →
- Congenital Myopathy — all drugs for Congenital Myopathy →
Sponsor
Assistance Publique Hopitaux De Marseille — full company profile →
Who can join
Eligibility, any sex, with Rare Genetic Muscle Diseases or Muscular Dystrophy, Duchenne. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
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.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06833489
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other Assistance Publique Hopitaux De Marseille trials
Trials by the same sponsor.
- NCT07521644 — Dysbiosis of Methanogenic Archaea and Nanoarchaea in the Oral Microbiome · NA · not yet recruiting
- NCT07357025 — Resting-State fMRI Study of Functional Connectivity After Gamma Knife Radiosurgery in Trigeminal Neuralgia · NA · not yet recruiting
- NCT07356661 — Evaluation of the Efficacy of Neurofeedback Technique Based on EEG Desynchronization in Epileptic Patients · NA · not yet recruiting
- NCT07399327 — Biomarkers of Response to SEEG Thermocoagulation · NA · not yet recruiting
- NCT06999499 — Development of an Aid to Melanoma Detection Using Artificial Intelligence Algorithms Based on Images From the VECTRA 3D · NA · not yet recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06833489 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Assistance Publique Hopitaux De Marseille
- Last refreshed: 18 February 2025
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT06833489.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing