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Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
This study has been completed.
First Received: February 24, 2000   Last Updated: June 23, 2005   History of Changes
Sponsors and Collaborators: National Center for Research Resources (NCRR)
University of Rochester
Information provided by: Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier: NCT00004769
  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 Intervention
Muscular Dystrophy
Drug: dextrose
Drug: insulin

Genetics Home Reference related topics: myotonic dystrophy
MedlinePlus related topics: Muscular Dystrophy
Drug Information available for: Insulin Dextrose
U.S. FDA Resources
Study Type: Observational
Study Design: Screening

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 130
Study Start Date: December 1993
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

Ages Eligible for Study:   21 Years to 60 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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
  • No prior or concurrent therapy
  • Not obese
  • No concurrent acute illness
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00004769

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

No publications provided

Study ID Numbers: 199/11770, URMC-583, URMC-445
Study First Received: February 24, 2000
Last Updated: June 23, 2005
ClinicalTrials.gov Identifier: NCT00004769     History of Changes
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
genetic diseases and dysmorphic syndromes
muscular dystrophy
neurologic and psychiatric disorders
rare disease

Study placed in the following topic categories:
Rare Diseases
Insulin
Muscular Dystrophies
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn
Mental Disorders
Myotonic Dystrophy
Atrophy
Myotonic Dystrophy 1
Muscular Atrophy
Myotonia Atrophica
Muscular Dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Diseases
Genetic Diseases, Inborn
Neuromuscular Diseases
Musculoskeletal Diseases
Muscular Disorders, Atrophic
Nervous System Diseases

ClinicalTrials.gov processed this record on May 07, 2009