- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00004769
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
Myotonic Dystrophy:Muscle Wasting and Altered Metabolism
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM.
II. Characterize the insulin resistance in these patients. III. Assess the glucose uptake in the leg and forearm tissues of these patients.
IV. Determine the stability of the DM gene lesion in muscles over a 5-10 year period.
Study Overview
Status
Conditions
Detailed Description
PROTOCOL OUTLINE: Patients are placed on a meatless diet 3 days prior to study entry.
During the first 5-day hospital stay, patients receive an oral glucose tolerance test, an intravenous glucose tolerance test, and an intravenous infusion of insulin and glucose (dextrose) to determine the degree of insulin resistance. Patients also receive dual x-ray absorptiometry (DEXA) scan and total body potassium count to measure muscle mass. Patients undergo strength testing and physical fitness screening. A needle biopsy is performed to investigate the genetic alterations associated with this disease.
During the second 3-day hospital stay, patients receive an intravenous infusion of insulin, stable isotopic glucose, and stable isotopic glycerol.
During the third 3-day hospital stay, a catheter is placed in the femoral artery, femoral vein, and in each arm. Patients receive an infusion of stable isotopic glucose, stable isotopic phenylalanine, and insulin. Measurements of the balance of amino acids and glucose across the forearm and leg are completed. Green dye is infused to measure blood flow in the leg.
Study Type
Enrollment (Actual)
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Clinically mild or moderate myotonic dystrophy (DM), proximal myotonic myopathy (PROMM), facioscapulohumeral muscular dystrophy (FSH) or, Charcot-Marie-Tooth (CMT)
- Mild or moderate DM defined as: Mild muscle weakness in the limbs, modest facial weakness, and mild grip myotonia; Moderate muscle weakness in the limbs, typical DM facies, and prominent grip myotonia
Exclusion Criteria:
- Prior or concurrent therapy
- Obese
- Concurrent acute illness
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
---|
Myotonic dystrophy
Subjects with myotonic dystrophy
|
Healthy controls
Healthy subjects
|
Disease controls 1
Subjects with FSHD
|
Disease controls 2
Subjects with CMT
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Quantitative myometry (QMT)
Time Frame: Visit 1
|
Visit 1
|
Collaborators and Investigators
Sponsor
Investigators
- Study Chair: Richard T. Moxley, III, University of Rochester
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Nervous System Diseases
- Neurologic Manifestations
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Muscular Diseases
- Neuromuscular Diseases
- Neurodegenerative Diseases
- Neuromuscular Manifestations
- Pathological Conditions, Anatomical
- Muscular Disorders, Atrophic
- Heredodegenerative Disorders, Nervous System
- Atrophy
- Myotonic Disorders
- Muscular Dystrophies
- Muscular Atrophy
- Myotonic Dystrophy
Other Study ID Numbers
- 199/11770
- URMC-583 (Other Identifier: University of Rochester)
- URMC-445 (Other Identifier: University of Rochester)
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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