ARNseq-MuscNCT06833489

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

StatusRecruiting

PhaseNot applicable

SponsorAssistance Publique Hopitaux De Marseille

Primary completionDec 1, 2026 (estimated)

At risk: Primary completion moved 3 months later.

See at-risk trials from Assistance Publique Hopitaux De Marseille

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Record History

All 2 versions: 2 with changes below. See every version on ClinicalTrials.gov ↗

Minor Oct 27, 2026 Primary completion pushed from Sep 1, 2026 to Dec 1, 2026 Show 4 more changesShow less
- Start date changed from estimate of Mar 1, 2025 to Jan 23, 2025
- Eligibility criteria expanded, about 6 words
- Secondary endpoints: details revised at 1 of 1 entry
- Site contact updated
Feb 17, 2025 Study First Submitted

Minor: routine updates

Endpoints

Primary

rate of positive diagnoses using the RNAseq approach

Timeframe: From enrollment to the end of study at 24 months

Secondary (1)

Identification of genomic characteristics

Arms and interventions

Sequencing of RNAseq librariesExperimental

There will be no visits from participants, so we will be using samples already in the Biological Resources Centre (CRB). RNA will be extracted from muscle biopsies taken as part of the treatment. RNAseq libraries will be sequenced by the Genomics and Bioinformatics Platform (GBiM) at Marseille Medical Genetics (MMG, U1251, AMU). Sequencing will be performed in paired-end (2\*100 bp) on Illumina's Novaseq 6000 system (50 million clusters per sample, 100 M paired-end reads) and then analysed by bioinformatics.

Other: ARN extraction from muscle biopsies

Sites

1 site in 1 country

Hopital TimoneMarseille, France

About this trial

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.

Trial details

Enrollment: 50 participants (estimated)
Started: Jan 23, 2025
Study completion: Mar 1, 2027 (estimated)
Eligibility: all ages, all sexes, no healthy volunteers
Design: Interventional, open label, diagnostic
Oversight: No data monitoring committee
Conditions: Glycogen Storage Disease Type II, Muscular Dystrophy, Duchenne, Myotonia Congenita, Rare Genetic Muscle Diseases, Muscular Dystrophy, Becker, Congenital Myopathy, Pompe Disease (Infantile-Onset)
First posted: Feb 18, 2025
Registry updated: Oct 28, 2026
Last verified: Oct 2026

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