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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00004769
First Posted: February 25, 2000
Last Update Posted: January 28, 2013
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Richard T Moxley, University of Rochester
  Purpose

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
Myotonic Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Myotonic Dystrophy:Muscle Wasting and Altered Metabolism

Resource links provided by NLM:


Further study details as provided by Richard T Moxley, University of Rochester:

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

Enrollment: 130
Study Start Date: December 1993
Study Completion Date: March 2000
Primary Completion Date: March 2000 (Final data collection date for primary outcome measure)
Groups/Cohorts
Myotonic dystrophy
Subjects with myotonic dystrophy
Healthy controls
Healthy subjects
Disease controls 1
Subjects with FSHD
Disease controls 2
Subjects with CMT

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.

  Eligibility

Information from the National Library of Medicine

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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
  Contacts and Locations
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
  More Information

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 Submitted: February 24, 2000
First Posted: February 25, 2000
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