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Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy

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ClinicalTrials.gov Identifier: NCT00004769
Recruitment Status : Completed
First Posted : February 25, 2000
Last Update Posted : January 28, 2013
Sponsor:
Information provided by (Responsible Party):
Richard T Moxley, University of Rochester

Brief Summary:

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.


Condition or disease
Myotonic Muscular Dystrophy

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 : Observational
Actual Enrollment : 130 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Myotonic Dystrophy:Muscle Wasting and Altered Metabolism
Study Start Date : December 1993
Actual Primary Completion Date : March 2000
Actual Study Completion Date : March 2000


Group/Cohort
Myotonic dystrophy
Subjects with myotonic dystrophy
Healthy controls
Healthy subjects
Disease controls 1
Subjects with FSHD
Disease controls 2
Subjects with CMT



Primary Outcome Measures :
  1. Quantitative myometry (QMT) [ Time Frame: Visit 1 ]


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Ages Eligible for Study:   21 Years to 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
National sample
Criteria

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

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): NCT00004769


Sponsors and Collaborators
University of Rochester
Investigators
Study Chair: Richard T. Moxley, III University of Rochester

Responsible Party: Richard T Moxley, Professor Of Neurology, University of Rochester
ClinicalTrials.gov Identifier: NCT00004769     History of Changes
Other Study ID Numbers: 199/11770
URMC-583 ( Other Identifier: University of Rochester )
URMC-445 ( Other Identifier: University of Rochester )
First Posted: February 25, 2000    Key Record Dates
Last Update Posted: January 28, 2013
Last Verified: January 2013

Keywords provided by Richard T Moxley, University of Rochester:
Genetic diseases
Myotonic muscular dystrophy
Facioscapulohumeral muscular dystrophy
CMT
Rare disease

Additional relevant MeSH terms:
Muscular Dystrophies
Myotonic Dystrophy
Muscular Atrophy
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Atrophy
Pathological Conditions, Anatomical
Signs and Symptoms