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Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy

Who can join

Ages 5 to 62 · Men · Healthy volunteers welcome

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

About the study

The purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD).

The investigators will compare the muscles of ambulatory or non-ambulatory boys/men with DMD with muscles of healthy individuals of the same age and monitor disease progression in those with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements.

Additionally, the investigators will map the progression of Becker MD following adults with this rare disease. The primary objective is to conduct a multi-centered study to validate the potential of non-invasive magnetic resonance imaging and magnetic resonance spectroscopy to monitor disease progression and to serve as a noninvasive surrogate outcome measure for clinical trials in DMD and BMD. The secondary objective is to characterize the progressive involvement of the lower extremity, upper extremity, trunk/respiratory muscles in boys/men with DMD and BMD guiding clinical trials.

Sponsor: University of Florida · Participants: 550 · Started: Sep 1, 2020

Contact the study team

• Krista Vandenborne, PhD · Phone: 352-273-6100
• Kelly Rock, PhD · Phone: 352-294-5798

Official record on ClinicalTrials.gov — NCT01484678

Locations in the U.S.

Conditions

• Duchenne Muscular Dystrophy

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.