Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy

Launched by UNIVERSITY OF FLORIDA · Nov 30, 2011

Keywords

ClinConnect Summary

This clinical trial is exploring how magnetic resonance imaging (MRI) and other imaging techniques can help doctors understand and track the progression of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). The study aims to see if these non-invasive methods can provide useful information about how these conditions affect muscles over time. Researchers will compare the muscle health of boys and men with DMD to that of healthy individuals and will also look into how muscle damage relates to everyday activities like walking. They will monitor participants for 5 to 10 years and will also examine how corticosteroid medications impact muscle health in some subjects.

To participate in this study, boys aged 5 to 30 diagnosed with DMD, as well as men aged 18 to 62 with BMD, may be eligible, especially if they have specific genetic mutations linked to these conditions. Participants can expect to undergo various MRI scans and assessments throughout the study. It's important to note that certain medical conditions or devices, such as pacemakers, may prevent someone from participating. Overall, this trial hopes to improve how doctors assess and treat muscular dystrophy by using advanced imaging techniques.

Gender

MALE

Eligibility criteria

• Inclusion Criteria for boys with DMD:
• 1. Ambulatory and non-ambulatory males (ages 5-30 at baseline testing) previously diagnosed with DMD based on:
• • clinical features with onset of symptoms before age five
• • elevated serum creatine kinase level or
• • absence of dystrophin expression, as determined by immunostain or western blot (\<2%) and/or DNA confirmation of a dystrophin mutation \*Subjects will not be excluded based on corticosteroid treatment or other clinical trials
• Inclusion Criteria for adults with Becker MD:
• • 1. Ambulatory males (ages 18-62) without disease or injury to the lower extremities
• • 2. Specific recruitment of a subset of individuals with deletion mutations in the dystrophin gene involving either exon 51 or exon 45.
• Inclusion Criteria for age matched controls for Becker MD subjects:
• • 1. Ambulatory males (ages 18-62) without disease or injury to the lower and/or upper extremities will be eligible to participate in this study
• Exclusion Criteria:
• • 1. Males with a contraindication to an MR examination
• • 2. Males with unstable medical problems
• • 3. Males who are not able to cooperate during testing
• • 4. Males with a secondary condition that may impact muscle metabolism, muscle function or functional ability (i.e. cerebral palsy, endocrine disorders, mitochondrial disease)
• • 5. Daytime ventilation
• • 6. Implantable Cardioverter Defibrillator- (ICD) or pace maker
• • 7. Healthy boys/men who participate in competitive sports specific training in excess of 8 hours per week