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

Sponsor

University of Rochester (Other)

Overall Status

Completed

CT.gov ID

NCT00004769

Collaborator

(none)

130

Enrollment

Duration (Months)

Study Details

Study Description

Brief Summary

OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM.

Characterize the insulin resistance in these patients. III. Assess the glucose uptake in the leg and forearm tissues of these patients.
Determine the stability of the DM gene lesion in muscles over a 5-10 year period.

Condition or Disease	Intervention/Treatment	Phase
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 Design

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 :

Dec 1, 1993

Actual Primary Completion Date :

Mar 1, 2000

Actual Study Completion Date :

Mar 1, 2000

Arms and Interventions

Arm	Intervention/Treatment
Myotonic dystrophy Subjects with myotonic dystrophy
Healthy controls Healthy subjects
Disease controls 1 Subjects with FSHD
Disease controls 2 Subjects with CMT

Outcome Measures

Primary Outcome Measures

Quantitative myometry (QMT) [Visit 1]

Eligibility Criteria

Criteria

Ages Eligible for Study:

21 Years to 60 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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