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Sponsors and Collaborators: |
Cooperative International Neuromuscular Research Group Children's Research Institute Muscular Dystrophy Association Levine Children's Hospital at Carolinas Medical Center |
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Information provided by: | Cooperative International Neuromuscular Research Group |
ClinicalTrials.gov Identifier: | NCT00893334 |
The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It involves a one day clinical evaluation at the General Clinical Research Center at Children's National Medical Center. This evaluation will take approximately four to six hours, and will involved strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.
Condition |
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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 |
Study Type: | Observational |
Study Design: | Case Control, Prospective |
Official Title: | Evaluation of Limb-Girdle Muscular Dystrophy |
Blood samples will be collected one time for DNA analysis.Only to confirm genotype if results are not available prior enrollement
Estimated Enrollment: | 60 |
Study Start Date: | April 2009 |
Estimated Study Completion Date: | April 2011 |
Estimated Primary Completion Date: | April 2010 (Final data collection date for primary outcome measure) |
Groups/Cohorts |
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Neuromuscular disease 1
Patients diagnosed with Becker Muscular Dystrophy
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Neuromusuclar disease 2
patient diagnosed with Limb-Girdle Muscular Dystrophy, type 2A Calpain-3 deficiency
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Neuromuscular disease 3
Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2B Myoshi myopathy Dysferlin deficiency
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Neuromuscular disease 4
Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2I FKRP-deficiency
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Control 5
Healthy Controls
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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 amperometric 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:
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.
Ages Eligible for Study: | 18 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
The subject population will include all patients diagnosed LGMD2I, LGMD2A, LGMD2B, and BMD. BMD is an X-linked recessive condition that only affects males. It has been described in all ethnic backgrounds. LGMD2I, LGMD2A and LGMD2B are autosomal recessive conditions affecting both males and females of all ethnic backgrounds equally, both sexes and all ethnicities are expected to be equally represented. Clinical symptoms manifest in the second decade of life, therefore all participants will be over the age of 18. Healthy controls will be recruited to match the study population based on age, sex, and ethnicity.
Inclusion Criteria:
Exclusion Criteria:
Contact: Paola Canelos, M.S | 202-476-2427 | pcanelos@cnmcresearch.org |
Contact: Meg Bradbury, M.S | 202-476-4925 | mbradbury@cnmcresearch.org |
United States, District of Columbia | |
Children's National Medical Center | Recruiting |
Washington, District of Columbia, United States, 20010 | |
Contact: Paola Canelos, M.S 202-476-2427 pcanelos@cnmcresearch.org | |
Contact: Meg Bradbury, M.S 202-476- 4925 mbradbury@cnmcresearch.org | |
Principal Investigator: Robert Leshner, M.D. | |
Sub-Investigator: Susan Sparks, M.D., Ph.D. |
Principal Investigator: | Robert Leshner, M.D. | Cooperative International Neuromuscular Research Group |
Principal Investigator: | Susan Sparks, M.D., Ph.D. | Levine Children's Hospital at Carolinas Medical Center |
Responsible Party: | Children's National Medical Center ( Dr. Robert Leshner, MD ) |
Study ID Numbers: | IRB#4463, MDA Grant: 129066 |
Study First Received: | May 4, 2009 |
Last Updated: | May 5, 2009 |
ClinicalTrials.gov Identifier: | NCT00893334 History of Changes |
Health Authority: | United States: Institutional Review Board |
Duchenne and Becker muscular dystrophy muscular dystrophy |
Becker's Muscular Dystrophy Limb-girdle Muscular Dystrophy Muscular Dystrophy, Duchenne and Becker Type Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Muscular Diseases Limb-girdle Muscular Dystrophy, Type 2B Muscular Disorders, Atrophic Musculoskeletal Diseases |
Neuromuscular Diseases Genetic Diseases, Inborn Muscular Dystrophy, Duchenne Duchenne Muscular Dystrophy Genetic Diseases, X-Linked Atrophy Miyoshi Myopathy Muscular Dystrophy |
Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Muscular Diseases Genetic Diseases, Inborn Neuromuscular Diseases |
Musculoskeletal Diseases Muscular Disorders, Atrophic Muscular Dystrophy, Duchenne Nervous System Diseases Genetic Diseases, X-Linked |