ClinicalTrials.gov record NCT06833489

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This diagnostic study uses RNA sequencing (RNAseq) on stored muscle biopsy samples from people with rare genetic muscle diseases who had negative results from prior DNA gene-panel testing. Lab teams will extract RNA, build sequencing libraries, and analyse the data using bioinformatics; participants have no study visits. The study plans to include 50 patients over 24 months and will report how often RNAseq yields a positive molecular diagnosis.

What it is studying. The study tests whether transcript (RNA) analysis of existing muscle biopsies can identify disease-causing changes that were not found by prior DNA sequencing, and it seeks to describe the genomic characteristics of any RNA-level pathogenic variants found.

What the researchers hope to learn. To determine the rate of positive molecular diagnoses reached by RNA sequencing in patients previously undiagnosed after DNA panel testing, and to identify genomic features of variants found by RNAseq that could help detect similar variants in future patients.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • ARN extraction from muscle biopsies

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

There are no participant visits. The study will use muscle biopsy samples already stored in the hospital biobank (CRB). Investigators will extract RNA from those biopsies, prepare RNA‑sequencing libraries, run sequencing, and analyse the data with bioinformatics tools. If RNA quality is insufficient, up to two extraction attempts will be made and samples failing quality criteria (INR > 7) will be excluded.

How the study is structured. Interventional diagnostic study with a single group and no masking. There are no study visits: the research uses muscle biopsy samples already stored in the Biobank. RNA will be extracted from those samples, sequenced, and analysed by bioinformatics. The study follows samples and results from enrollment through the planned 24‑month study period.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Pompe disease

Clinical trials32 trials listed for Pompe diseaseEvery trial the registry lists for Pompe disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Pompe disease researchLatest monthly update: September 2026. Includes: Antibody effects. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 1, 2025 (estimated)
Primary completion
Sep 1, 2026 (estimated)
Study completion
Mar 1, 2027 (estimated)
Target enrollment
50 participants (estimated)
Last updated on registry
Feb 18, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assistance Publique Hopitaux De Marseille

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

biopsy
Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials