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

University of Rochester

Status: Completed

Conditions: Myotonic Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT00004769

URMC-445 (Other Identifier)

URMC-583 (Other Identifier)

199/11770

Details and patient eligibility

About

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.

Full 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.

Enrollment: 130 patients

Sex: All

Ages: 21 to 60 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

130 participants in 4 patient groups

Myotonic dystrophy

Description:

Subjects with myotonic dystrophy

Healthy controls

Description:

Healthy subjects

Disease controls 1

Description:

Subjects with FSHD

Disease controls 2

Description:

Subjects with CMT