BridgeMD
New treatment option for Rare Genetic Muscle Diseases
Official title Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
ClinicalTrials.gov ID: NCT06833489
What this study is testing
- What it's testing
- 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.
- Time commitment: about 2 years
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Adults
You may be able to join if
- patients with rare genetic muscle diseases who have benefited from high-throughput sequencing analysis (panel of 200 genes defined by the FILNEMUS...
- this genetic analysis did not identify pathogenic variants explaining the patient's phenotype This criterion is necessary in order to include only...
- a muscle biopsy of the patient is available in the Biological Resources Centre (CRB) at the AP-HM.
You likely can't join if
- 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...
The study team makes the final eligibility decision.
Where it's taking place
- Marseille, France
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The study runs about 2 years per participant, based on its public description. The team confirms the exact schedule and number of visits before you enroll.
Who can join this trial?
This study is enrolling all sexes, not specified. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Marseille, France. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.