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

This study has been completed.
Information provided by (Responsible Party):
Richard T Moxley, University of Rochester Identifier:
First received: February 24, 2000
Last updated: January 25, 2013
Last verified: January 2013

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.

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 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)
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.


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

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
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Please refer to this study by its identifier: NCT00004769

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

Responsible Party: Richard T Moxley, Professor Of Neurology, University of Rochester 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 )
Study First Received: February 24, 2000
Last Updated: January 25, 2013

Keywords provided by University of Rochester:
Genetic diseases
Myotonic muscular dystrophy
Facioscapulohumeral muscular dystrophy
Rare disease

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Atrophy
Myotonic Dystrophy
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Neuromuscular Manifestations
Neurologic Manifestations
Pathological Conditions, Anatomical
Signs and Symptoms
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases processed this record on April 28, 2017