Follow-up Study on Female Carriers With DMD Gene Variants

Launched by RIGSHOSPITALET, DENMARK · Jan 27, 2023

Keywords

ClinConnect Summary

This clinical trial is studying how Duchenne and Becker muscular dystrophies affect female carriers of the DMD gene. These conditions are caused by changes in a specific gene that can be passed down from mothers to their children. Many women with these gene changes may not show symptoms, while others can experience varying degrees of muscle and heart issues. The trial aims to follow up with women who were part of a similar study six years ago to see how their heart and muscle function have changed over time. It will also explore how the way their genes are activated might relate to the severity of their symptoms.

To participate, women must be at least 18 years old and confirmed carriers of the DMD gene through genetic testing. They can choose to take part in one or both parts of the study, which may involve heart and muscle scans. For patients with Becker muscular dystrophy (BMD), they can only join the part that focuses on comparing heart function. It's important to note that some individuals may not be eligible due to specific health issues or conditions that could interfere with the study tests. Participants will receive a thorough assessment of their muscle strength and heart health, helping researchers better understand these conditions and improve future care.

Gender

ALL

Eligibility criteria

• Part 1:
• Criteria of inclusion:
• • Female gender
• • Verified carrier of DMD gene mutations through genetic testing.
• • Age of 18 years or more
• • Participation in the study 6 years ago
• Criteria of exclusion from MRI:
• • Contraindications to MRI (pacemaker or other internal metal or magnetic devices)
• • Claustrophobia.
• • Pregnant or nursing women.
• • Competing disorders and other muscle disorders, which may alter measurements of i.e., muscle strength. The investigator will decide whether or not the competing disorder can significantly influence the results.
• • Patients will be investigated with all other measurements than MRI if not eligible for MRI.
• Part 2:
• Criteria of inclusion:
• • Female gender
• • Verified carrier of DMD gene mutations through genetic testing.
• • Age of 18 years or more
• Criteria of exclusion:
• • • Anticoagulating medicine that cannot be paused due to health reasons
• Part 3:
• Criteria of inclusion:
• • Genetically verified patient with BMD
• • Age of 18 years or more
• Criteria of exclusion:
• • Contraindications to MRI (pacemaker or other internal metal or magnetic devices)
• • Claustrophobia.
• • Atrial fibrillation
• • Competing disorders and other muscle disorders, which may alter measurements of i.e., muscle strength. The investigator will decide whether or not the competing disorder can significantly influence the results.