U.S., Feb. 19 -- ClinicalTrials.gov registry received information related to the study (NCT06833489) titled 'Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases' on Feb. 13.
Brief Summary: 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. F...