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

NCT ID: NCT00004769

Last Updated: 2013-01-28

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 130 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 1993-12-31
• Study Completion Date: 2000-03-31

Brief Summary

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.

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.

Conditions

Myotonic Muscular Dystrophy

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Myotonic dystrophy

Subjects with myotonic dystrophy

No interventions assigned to this group

Healthy controls

Healthy subjects

No interventions assigned to this group

Disease controls 1

Subjects with FSHD

No interventions assigned to this group

Disease controls 2

Subjects with CMT

No interventions assigned to this group

Eligibility 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

• Minimum Eligible Age: 21 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University of Rochester

OTHER

Sponsor Role: lead

Responsible Party

Richard T Moxley

Professor Of Neurology

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Richard T. Moxley, III

Role: STUDY_CHAIR

University of Rochester

Other Identifiers

URMC-583

Identifier Type: OTHER

Identifier Source: secondary_id

URMC-445

Identifier Type: OTHER

Identifier Source: secondary_id

199/11770

Identifier Type: -

Identifier Source: org_study_id