Evaluation of Limb-Girdle Muscular Dystrophy

March 6, 2014 updated by: Cooperative International Neuromuscular Research Group
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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Anticipated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • District of Columbia
      • Washington, District of Columbia, United States, 20010
        • Children's National Medical Center
    • North Carolina
      • Charlotte, North Carolina, United States
        • Carolinas Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Control
Healthy Controls
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
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
12 months

Secondary Outcome Measures

Outcome Measure
Time Frame
Evaluation of surrogate and clinically relevant outcome measures in LGMD.
Time Frame: 24 months
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
24 months
Evaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis.
Time Frame: 24 months
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Cooperative International Neuromuscular Research Group

Collaborators

Carolinas Medical Center lead study site

Investigators

  • Principal Investigator: Carolina Tesi-Rocha, M.D., Cooperative International Neuromuscular Research Group
  • Principal Investigator: Susan Sparks, M.D., Ph.D., Levine Children's Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2009

Primary Completion (Actual)

December 1, 2013

Study Completion (Actual)

December 1, 2013

Study Registration Dates

First Submitted

May 4, 2009

First Submitted That Met QC Criteria

May 5, 2009

First Posted (Estimate)

May 6, 2009

Study Record Updates

Last Update Posted (Estimate)

March 7, 2014

Last Update Submitted That Met QC Criteria

March 6, 2014

Last Verified

March 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB#4463
  • MDA Grant: 129066

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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