Evaluation of Limb-Girdle Muscular Dystrophy
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ClinicalTrials.gov Identifier: NCT00893334 |
Recruitment Status :
Completed
First Posted : May 6, 2009
Last Update Posted : March 7, 2014
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Condition or disease |
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Becker Muscular Dystrophy Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency) Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency) Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency) |
Specific Aims:
Aim 1: Evaluate integrity of the extracellular matrix in patients with LGMD by measuring serum growth factors and cytokines and compare these to a disease control (BMD) and normal volunteers.
Aim 2: Measure growth factors and cytokines following medical evaluation and compare them to the baseline levels.
Aim 3: Discovery Aim for future multicenter clinical trials in LGMD. Aim 3A: Abstract medical records with particular emphasis on age of disease onset, initial clinical symptoms, progression and location of the muscular weakness, treatments attempted, and other medical complications. A review of the diagnostic testing performed will also be conducted.
Aim 3B: Perform complete clinical evaluation including anthropometric measures, evaluation of joint limitations, timed functional testing, muscle strength, pulmonary function, and a cardiac assessment.
Aim 3C: Determine patient understanding of diagnosis of LGMD and genetic testing results. A questionnaire will be generated that addresses the patient's understanding of his/her diagnosis as well as their understanding of genetic concepts of autosomal recessive inheritance, genes, molecular testing and implications for themselves as well as their family.
Aim 3D: Quality of Life (QOL) questionnaires will be administered. These will be used to identify functional limitations by the patients and compare those limitations with the clinical evaluation.
Study Description
Only one visit will be necessary for this study. The study visit includes:
- Review of the informed consent form
- Blood collection Blood will be collected for the following: DNA extraction to confirm genotype if not already performed; Muscle Enzymes before and after physical evaluation; and Growth factors and cytokines: before and after physical evaluation.
- Medical history review
- Physical Examination
- Questionnaires: Participants will complete 3 questionnaires: Diagnosis and genetic testing, ACTIVLIM, and INQoL
- Clinical Evaluator assessment which includes: Manual Muscle Testing, Quantitative Muscle Testing, Pulmonary Function Testing, Anthropometric measurements, and Timed and Functional testing
- Cardiac evaluation will include: Electrocardiogram and Echocardiogram
Control subjects will be required to come to the test site to complete the informed consent process, clinical evaluator assessment, and have blood drawn before and after the clinical evaluator assessment. No other examinations or procedures will be performed on the control participants.
Study Type : | Observational |
Estimated Enrollment : | 60 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
Official Title: | Evaluation of Limb-Girdle Muscular Dystrophy |
Study Start Date : | April 2009 |
Actual Primary Completion Date : | December 2013 |
Actual Study Completion Date : | December 2013 |

Group/Cohort |
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BMD:
Patients diagnosed with Becker Muscular Dystrophy
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LGMD2A
patient diagnosed with Limb-Girdle Muscular Dystrophy, type 2A Calpain-3 deficiency
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LGMD2B
Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2B Miyoshi myopathy Dysferlin deficiency
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LGMD2I
Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2I FKRP-deficiency
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Control
Healthy Controls
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- The measurement of growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) between the different types of LGMD and BMD. [ Time Frame: 12 months ]
- The difference in the growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) pre-evaluation and post-evaluation. [ Time Frame: 12 months ]
- Evaluation of surrogate and clinically relevant outcome measures in LGMD. [ Time Frame: 24 months ]
- Quality of life questionnaires to correlate patient- perceived limitations in daily activities with the quantitative strength measurements and functional ability with timed testing. [ Time Frame: 24 months ]
- Evaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis. [ Time Frame: 24 months ]
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- 18 years of age or older.
- Diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD as determined by muscle biopsy immunohistochemistry, immunoblotting, or molecular analysis.
- Able to travel to study site
- Normal controls will be recruited as either friends of the study participants or through separate recruitment.
Exclusion Criteria:
- Unable to travel to study site.
- Do not have the diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD after review of clinical testing.

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): NCT00893334
United States, District of Columbia | |
Children's National Medical Center | |
Washington, District of Columbia, United States, 20010 | |
United States, North Carolina | |
Carolinas Medical Center | |
Charlotte, North Carolina, United States |
Principal Investigator: | Carolina Tesi-Rocha, M.D. | Cooperative International Neuromuscular Research Group | |
Principal Investigator: | Susan Sparks, M.D., Ph.D. | Levine Children's Hospital |
Responsible Party: | Cooperative International Neuromuscular Research Group |
ClinicalTrials.gov Identifier: | NCT00893334 |
Other Study ID Numbers: |
IRB#4463 MDA Grant: 129066 |
First Posted: | May 6, 2009 Key Record Dates |
Last Update Posted: | March 7, 2014 |
Last Verified: | March 2014 |
Duchenne and Becker muscular dystrophy muscular dystrophy |
Muscular Dystrophies Muscular Dystrophy, Duchenne Muscular Dystrophies, Limb-Girdle Muscular Disorders, Atrophic Muscular Diseases |
Musculoskeletal Diseases Neuromuscular Diseases Nervous System Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked |