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Evaluation of Limb-Girdle 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: NCT00893334
Recruitment Status : Completed
First Posted : May 6, 2009
Last Update Posted : March 7, 2014
Sponsor:
Collaborator:
Carolinas Medical Center lead study site
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group

Study Description
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Brief Summary:
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 is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve 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 or disease
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)

Detailed Description:

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:

  1. Review of the informed consent form
  2. 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.
  3. Medical history review
  4. Physical Examination
  5. Questionnaires: Participants will complete 3 questionnaires: Diagnosis and genetic testing, ACTIVLIM, and INQoL
  6. Clinical Evaluator assessment which includes: Manual Muscle Testing, Quantitative Muscle Testing, Pulmonary Function Testing, Anthropometric measurements, and Timed and Functional testing
  7. 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 Design
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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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
BMD:
Patients diagnosed with Becker Muscular Dystrophy
LGMD2A
patient diagnosed with Limb-Girdle Muscular Dystrophy, type 2A Calpain-3 deficiency
LGMD2B
Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2B Miyoshi myopathy Dysferlin deficiency
LGMD2I
Patients diagnosed with Limb-Girdle Muscular Dystrophy, type 2I FKRP-deficiency
Control
Healthy Controls


Outcome Measures
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Primary Outcome Measures :
  1. 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 ]
  2. 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 ]

Secondary Outcome Measures :
  1. Evaluation of surrogate and clinically relevant outcome measures in LGMD. [ Time Frame: 24 months ]
  2. 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 ]
  3. Evaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis. [ Time Frame: 24 months ]

Biospecimen Retention:   Samples With DNA
Blood samples will be collected one time for DNA analysis.Only to confirm genotype if results are not available prior enrollement

Eligibility Criteria
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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
Study Population
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.
Criteria

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.
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): NCT00893334


Locations
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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
Sponsors and Collaborators
Cooperative International Neuromuscular Research Group
Carolinas Medical Center lead study site
Investigators
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Principal Investigator: Carolina Tesi-Rocha, M.D. Cooperative International Neuromuscular Research Group
Principal Investigator: Susan Sparks, M.D., Ph.D. Levine Children's Hospital
More Information
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Additional Information:
CINRG  This link exits the ClinicalTrials.gov site

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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
Keywords provided by Cooperative International Neuromuscular Research Group:
Duchenne and Becker muscular dystrophy
muscular dystrophy
Additional relevant MeSH terms:
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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