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

January 25, 2013 updated by: Richard T Moxley, University of Rochester

Myotonic Dystrophy:Muscle Wasting and Altered Metabolism

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

130

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

17 years to 56 years (Adult)

Accepts Healthy Volunteers

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

National sample

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Case-Control
Time Perspectives: Prospective

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Myotonic dystrophy Subjects with myotonic dystrophy
Healthy controls Healthy subjects
Disease controls 1 Subjects with FSHD
Disease controls 2 Subjects with CMT

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Quantitative myometry (QMT) Time Frame: Visit 1	Visit 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Rochester

Investigators

Study Chair: Richard T. Moxley, III, University of Rochester

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

December 1, 1993

Primary Completion (Actual)

March 1, 2000

Study Completion (Actual)

March 1, 2000

Study Registration Dates

First Submitted

February 24, 2000

First Submitted That Met QC Criteria