NCT00004769

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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
130

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Dec 1993

Longer than P75 for all trials

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 1, 1993

Completed
6.2 years until next milestone

First Submitted

Initial submission to the registry

February 24, 2000

Completed
1 day until next milestone

First Posted

Study publicly available on registry

February 25, 2000

Completed
5 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2000

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2000

Completed
Last Updated

January 28, 2013

Status Verified

January 1, 2013

Enrollment Period

6.3 years

First QC Date

February 24, 2000

Last Update Submit

January 25, 2013

Conditions

Myotonic Muscular Dystrophy

Keywords

Genetic diseasesMyotonic muscular dystrophyFacioscapulohumeral muscular dystrophyCMTRare disease

Outcome Measures

Primary Outcomes (1)

  • Quantitative myometry (QMT)

    Visit 1

Study Arms (4)

Myotonic dystrophy

Subjects with myotonic dystrophy

Healthy controls

Healthy subjects

Disease controls 1

Subjects with FSHD

Disease controls 2

Subjects with CMT

Eligibility Criteria

Age21 Years - 60 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64)
Sampling MethodNon-Probability Sample
Study Population

National sample

You may qualify if:

  • 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

You may not qualify if:

  • Prior or concurrent therapy
  • Obese
  • Concurrent acute illness

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Myotonic DystrophyGenetic Diseases, InbornMuscular Dystrophy, FacioscapulohumeralRare Diseases

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesMyotonic DisordersHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesNeuromuscular DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Richard T. Moxley, III

    University of Rochester

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor Of Neurology

Study Record Dates

First Submitted

February 24, 2000

First Posted

February 25, 2000

Study Start

December 1, 1993

Primary Completion

March 1, 2000

Study Completion

March 1, 2000

Last Updated

January 28, 2013

Record last verified: 2013-01