Evaluation of Limb-Girdle Muscular Dystrophy
| Status: | Archived |
|---|---|
| Conditions: | Neurology, Orthopedic |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 7/1/2011 |
| Start Date: | April 2009 |
| End Date: | August 2011 |
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.
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.
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