A clinical trial that aims to assess the change in muscle and heart function and structure in a 6-year span in a cohort of women Duchenne muscular dystrophy (DMD) carriers is currently in the recruiting phase.

DMD is an X-linked recessive disorder. Female carriers of the disease may transmit it to their daughters, resulting in a significant population of female DMD carriers, the researchers noted. The genetically transmitted dystrophin gene mutation can have severe clinical consequences or be practically asymptomatic, they added.

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Although skewed X-chromosome inactivation (XCI) might be responsible for the phenotype variability among carriers, the underlying cause is not yet fully understood, the study team said.

With the aim of better understanding the phenotype variability among female DMD carriers, the authors assessed the structure and function of skeletal and cardiac muscle in a population of 53 confirmed women carriers of the disease over 6 years. Researchers aim to perform a follow-up study in the same population to compare results to describe symptom progression.

Exclusion criteria include claustrophobia or fear of MRI machines, contraindications for magnetic resonance imaging (MRI) for any reason, pregnancy or lactation, and the presence of other muscular disorders.

The second part of the study aims to obtain muscle biopsies of the included patients to investigate the XCI and to perform muscle MRI studies. The third part of the study will compare the cardiac affection of DMD/Becker muscular dystrophy carriers (BMD) to that of patients with BMD.

The primary endpoints of the study include a change in muscle fat fraction, change in heart fibrosis, change in left ventricular ejection fraction and global longitudinal strain score, the correlation between XCI and phenotype, and a comparison of the cardiac status of patients with BMD and DMD carriers.

Secondary endpoints include the change in contractility, change in creatinine kinase blood concentrations, change in troponin T blood concentrations, and change in lower and upper extremity exchange, among others.

Reference

Follow-up study on female Carriers with DMD gene variants. ClinicalTrials.gov. Updated February 9, 2023. Accessed February 15, 2023.

Neurologists