Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Neurology, Women's Studies |
| Therapuetic Areas: | Neurology, Reproductive |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 3/24/2019 |
| Start Date: | May 9, 2013 |
| End Date: | February 20, 2021 |
Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy
Background:
- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions,
the muscle membrane is more fragile. This affects how the muscles contract and relax, which
causes movement problems. Researchers are looking at several muscle enzymes, or chemicals
that affect how muscle cells function. By studying changes in these enzymes, they may be able
to better understand how muscular dystrophy affects the cells. Researchers want to collect
biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular
dystrophy. This information may provide better treatments for this condition.
Objectives:
- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular
dystrophy.
Eligibility:
- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.
Design:
- Participants will be screened with a medical history and physical exam.
- Participants will be asked to come for four visits to the National Institutes of Health
Clinical Center. The visits will be at least 2 months apart. Each visit will require
participants to stay for 5 days at the clinical center.
- During each visit, participants will provide frequent small blood samples. These samples
will be collected while at rest and after physical exercise.
- Participants will also have a physical therapy assessment. They will perform standard
motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour
each time.
- Treatment will not be provided as part of this study.
- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions,
the muscle membrane is more fragile. This affects how the muscles contract and relax, which
causes movement problems. Researchers are looking at several muscle enzymes, or chemicals
that affect how muscle cells function. By studying changes in these enzymes, they may be able
to better understand how muscular dystrophy affects the cells. Researchers want to collect
biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular
dystrophy. This information may provide better treatments for this condition.
Objectives:
- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular
dystrophy.
Eligibility:
- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.
Design:
- Participants will be screened with a medical history and physical exam.
- Participants will be asked to come for four visits to the National Institutes of Health
Clinical Center. The visits will be at least 2 months apart. Each visit will require
participants to stay for 5 days at the clinical center.
- During each visit, participants will provide frequent small blood samples. These samples
will be collected while at rest and after physical exercise.
- Participants will also have a physical therapy assessment. They will perform standard
motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour
each time.
- Treatment will not be provided as part of this study.
Objectives: the aim of this protocol is to identify biomarker and clinical correlates of
changes in the barrier function of skeletal muscle membrane (i.e. cell membrane permeability)
before and after routine motor function testing in patients with one of the Fragile
Sarcolemmal Muscular Dystrophies (FSMD).
Study population: patients with early adulthood or later onset of a FSMD (LGMD2B-F, I, L, MM,
BMD, and MMD3).
Design: pilot study.
Outcome measures: increased change in baseline levels of proteins that are released into the
blood from damaged skeletal muscle, such as creatine kinase (CK), lactate dehydrogenase
(LDH), aspartate aminotransferase (AST), alanine aminotransferase (ALT), troponins, and
myoglobin in serum, changes in inflammation markers, circulating microRNAs and imaging
studies to identify effective biomarkers for use in future clinical trials.
changes in the barrier function of skeletal muscle membrane (i.e. cell membrane permeability)
before and after routine motor function testing in patients with one of the Fragile
Sarcolemmal Muscular Dystrophies (FSMD).
Study population: patients with early adulthood or later onset of a FSMD (LGMD2B-F, I, L, MM,
BMD, and MMD3).
Design: pilot study.
Outcome measures: increased change in baseline levels of proteins that are released into the
blood from damaged skeletal muscle, such as creatine kinase (CK), lactate dehydrogenase
(LDH), aspartate aminotransferase (AST), alanine aminotransferase (ALT), troponins, and
myoglobin in serum, changes in inflammation markers, circulating microRNAs and imaging
studies to identify effective biomarkers for use in future clinical trials.
- INCLUSION CRITERIA:
- Aged 18 or older
- Have a confirmed genetic diagnosis of one of the FSMDs or have a clinical phenotype
consistent with one of the FSMDs
- Be able to travel to the NIH Clinical Center at the NIH for studies
- Able to commit to multiple 5 day stays at the NIH Clinical Center
- Established primary care physician
- Ambulant: able to walk 10 meters or 33 feet without walking aids or orthotics
EXCLUSION CRITERIA:
- Fail to meet the above inclusion criteria
- Are unable or unwilling to be examined
- Adults unable to provide their own consent
- Have active, on-going medical problems such as (e.g. diabetes, hypothyroidism,
pancreatitis, anemia, cancer, renal, hepatic, Pulmonary or cardiac disease) or who
have undergone recent surgery (i.e. less than 8 days post-surgery)
- Pregnant females
- Currently taking any or a combination of anti-inflammatory drugs, statins or other
drugs with known myotoxicity, narcotics
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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