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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Richard T Moxley, University of Rochester
ClinicalTrials.gov Identifier:
NCT00004769
First received: February 24, 2000
Last updated: January 25, 2013
Last verified: January 2013
  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 University of Rochester:

Primary Outcome Measures:
  • Quantitative myometry (QMT) [ Time Frame: Visit 1 ] [ Designated as safety issue: No ]

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

Ages Eligible for Study:   21 Years to 60 Years
Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

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

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, URMC-445
Study First Received: February 24, 2000
Last Updated: January 25, 2013
Health Authority: United States: Federal Government

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

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

ClinicalTrials.gov processed this record on July 28, 2014