Evaluation of Limb-Girdle Muscular Dystrophy
2 other identifiers
observational
60
1 country
2
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Apr 2009
Longer than P75 for all trials
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
April 1, 2009
CompletedFirst Submitted
Initial submission to the registry
May 4, 2009
CompletedFirst Posted
Study publicly available on registry
May 6, 2009
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2013
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2013
CompletedMarch 7, 2014
March 1, 2014
4.7 years
May 4, 2009
March 6, 2014
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
The measurement of growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) between the different types of LGMD and BMD.
12 months
The difference in the growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) pre-evaluation and post-evaluation.
12 months
Secondary Outcomes (3)
Evaluation of surrogate and clinically relevant outcome measures in LGMD.
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.
24 months
Evaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis.
24 months
Study Arms (5)
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
Eligibility Criteria
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.
You may qualify if:
- 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.
You may not qualify if:
- Unable to travel to study site.
- Do not have the diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD after review of clinical testing.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (2)
Children's National Medical Center
Washington D.C., District of Columbia, 20010, United States
Carolinas Medical Center
Charlotte, North Carolina, United States
Related Links
Biospecimen
Blood samples will be collected one time for DNA analysis.Only to confirm genotype if results are not available prior enrollement
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Carolina Tesi-Rocha, M.D.
Cooperative International Neuromuscular Research Group
- PRINCIPAL INVESTIGATOR
Susan Sparks, M.D., Ph.D.
Levine Children's Hospital
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NETWORK
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
May 4, 2009
First Posted
May 6, 2009
Study Start
April 1, 2009
Primary Completion
December 1, 2013
Study Completion
December 1, 2013
Last Updated
March 7, 2014
Record last verified: 2014-03