COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu

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

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. Identifier: NCT00004769
Recruitment Status : Completed
First Posted : February 25, 2000
Last Update Posted : January 28, 2013
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.

Layout table for study information
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

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 ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
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

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 identifier (NCT number): NCT00004769

Sponsors and Collaborators
University of Rochester
Layout table for investigator information
Study Chair: Richard T. Moxley, III University of Rochester
Layout table for additonal information
Responsible Party: Richard T Moxley, Professor Of Neurology, University of Rochester Identifier: NCT00004769    
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
Rare disease
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Dystrophies
Myotonic Dystrophy
Muscular Atrophy
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Signs and Symptoms
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Pathological Conditions, Anatomical