Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy



Status:Recruiting
Conditions:Neurology, Orthopedic
Therapuetic Areas:Neurology, Orthopedics / Podiatry
Healthy:No
Age Range:5 - 18
Updated:1/2/2019
Start Date:May 2010
End Date:April 2020
Contact:Krista Vandenborne, PhD
Email:kvandenb@phhp.ufl.edu
Phone:352-273-6100

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Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy; The Relationship Between Genomic Variants And MRI/MRS Markers In DMD

The purpose of this research study is to determine the potential of magnetic resonance
imaging to monitor disease progression and to serve as an objective outcome measure for
clinical trials in Duchenne Muscular Dystrophy (DMD). The investigators also hope to learn
more about the changes that occur in muscles of the lower leg and arm in boys with DMD.

The investigators will compare the muscles of ambulatory or non-ambulatory boys with DMD with
muscles of healthy children of the same age and monitor disease progression in boys 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.

The overall objective of this proposal is to validate the potential of noninvasive magnetic
resonance imaging (MRI) and spectroscopy (MRS) to monitor disease progression and to serve as
an outcome measure for clinical trials in Duchenne muscular dystrophy (DMD). DMD is one of
the most devastating genetically linked neuromuscular diseases and is characterized by the
absence of dystrophin, resulting in progressive muscle weakness, loss of walking ability and
premature death. Despite the poor prognosis for patients with muscular dystrophy, therapeutic
interventions have been lacking, and outcome measures for clinical trials have been limited
to measures of muscle function, serum biomarkers of muscle breakdown and invasive muscle
biopsies. Additional quantitative outcome measures that are noninvasive and sensitive to
changes in muscle structure and composition are needed to facilitate the rapid translation of
promising new interventions from preclinical studies to clinical trials. As such, this
proposal targets the development and validation of magnetic resonance as a noninvasive
biomarker of disease progression in muscular dystrophy. Using a multi-site research design
this study will examine the intramuscular lipid content, muscle damage/inflammation and
contractile area in the lower extremity and/or upper extremity muscles of 200 ambulatory or
non-ambulatory boys with DMD and 100 healthy age matched boys using a combination of MRI and
MRS technologies. In order to assess the sensitivity of each MR measure to disease
progression, all boys with DMD will be reevaluated in yearly or 6 month intervals. In
addition, the investigators will correlate changes in MR measures with standard measures of
disease progression, such as loss in muscle strength and functional ability. Using MRI/MRS
the investigators will also examine the effect of initiating corticosteroid treatment on
skeletal muscle characteristics and composition. Finally, the investigators will deposit
immortalized fibroblasts from carefully characterized DMD boys participating in this study in
established tissue repositories.

The investigators anticipate that the MR techniques developed and validated in this proposal
will be suitable for clinical trials in a wide range of muscular dystrophies and other
neuromuscular diseases. In addition, MR characterization may serve as a powerful tool to
further advance our understanding of the pathogenesis of muscular dystrophy and help guide
the design of future trials.

Inclusion Criteria for boys with DMD:

1. Ambulatory and non-ambulatory males (ages 5-18) 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.

2. Subjects will not be excluded based on corticosteroid treatment

Inclusion Criteria for age matched controls:

1. Ambulatory males (ages 5-18) without disease or injury to the lower extremities

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. Healthy boys who participate in competitive sports specific training in excess of 8
hours per week. Participation in multiple recreational sports activities is not an
exclusion.
We found this trial at
3
sites
South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Principal Investigator: Gihan Tennekoon, MD
Phone: 215-590-1710
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Gainesville, Florida 32610
(352) 392-3261
Principal Investigator: Krista Vandenborne, PhD
Phone: 352-273-6100
University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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3181 Southwest Sam Jackson Park Road
Portland, Oregon 97239
503 494-8311
Principal Investigator: Bill Rooney, PhD
Phone: 503-418-1532
Oregon Health and Science University In 1887, the inaugural class of the University of Oregon...
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Portland, OR
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