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Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01851447
Recruitment Status : Active, not recruiting
First Posted : May 10, 2013
Last Update Posted : December 16, 2021
Sponsor:
Collaborators:
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health Clinical Center (CC)
University of Massachusetts, Worcester
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Study Description
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Brief Summary:

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.

Condition or disease
Genetic Disorder

Detailed Description:

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).

Study Phase: 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.

Study Design
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Study Type : Observational
Actual Enrollment : 11 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy
Actual Study Start Date : November 3, 2014
Estimated Primary Completion Date : December 31, 2022
Estimated Study Completion Date : December 31, 2022

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Fragile Sarcolemmal Muscular Dystrophy
patients with early adulthood or late onset of a genetic disorder FSMD (LGMD 2B-F, I, L, MM, BMD and MMD3)


Outcome Measures
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Primary Outcome Measures :
  1. changes in biomarker levels [ Time Frame: early in the morning, before and after morning activities ]
    biomarker levels (CK, ALT, AST...) increases

  2. changes in biomarker levels [ Time Frame: after physical exercise, strength test under guidance of physical therapist ]
    biomarker levels (CK, ALT, AST...) increase


Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
11 patients, 18 years or older with early adulthood or later onset of a genetically diagnosed FSMD will be enrolled in this study. We estimate no more than 50 patients to be eligible for enrollment. This pilot study will accept a maximum of 11 patients.
Criteria
  • 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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01851447


Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health Clinical Center (CC)
University of Massachusetts, Worcester
Investigators
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Principal Investigator: Joshua J Zimmerberg, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
More Information
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Additional Information:

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Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT01851447    
Other Study ID Numbers: 130112
13-CH-0112
First Posted: May 10, 2013    Key Record Dates
Last Update Posted: December 16, 2021
Last Verified: November 8, 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Membrane Wound
Inflammatory Cytokines
Exercise
 Plasma Membrane Repair
Predictors of Outcome
Natural History
Additional relevant MeSH terms:
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Muscular Dystrophies
Genetic Diseases, Inborn
Muscular Disorders, Atrophic
Muscular Diseases
 Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases