Multicenter Observational Study of Myotonic Dystrophy Type 1

NCT02308657 | Completed

• 2 other identifiers: RSRB48991U54NS048843
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 6

Brief Summary

The purpose of the study is to determine the best ways to assess how people are affected by myotonic dystrophy type 1 (DM1). The study will assess walking speed, muscle strength, muscle size, myotonia, heart rhythm, mental efficiency, and overall health. Participants will complete questionnaires to record their ideas about how they are affected by DM1. The study will evaluate people with DM1 over 1 year to determine how the condition changes over time. The study will identify biomarkers of DM1. Biomarkers are laboratory measurements that show the effects of DM1 on a person's muscle tissue or blood. Biomarkers are needed in future studies to determine how DM1 may respond to treatments.

Conditions

Myotonic Dystrophy Type 1

Outcome Measures

Primary Outcomes (1)

• Needle Muscle Biopsy RNA Biomarkers

  To evaluate the stability of RNA splice events as biomarkers of DM1.

  Baseline, 3 months

Secondary Outcomes (3)

• Myotonia

  Baseline, 3 months, 1 year

• Muscle Strength

  Baseline, 3 months, 1 year

• Myotonic Dystrophy Health Index (MDHI)

  Baseline, 3 months, 1 year

Other Outcomes (1)

• Timed functional tests

  Baseline, 3 months, 1 year

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Approximately 100 adult patients (18 to 70 years old, inclusive) with DM1 will be enrolled at 6 centers.

You may qualify if:

• Ability to understand the purpose and risks of the study and provide signed informed consent and authorization to use protected health information in accordance with national and local patient privacy regulations.
• Men and women, 18 to 70 years old, inclusive; body mass index ≤33.
• Onset of DM1 after age 10.
• Clinical diagnosis of DM1 based on research criteria or prior genetic testing with confirmation of CTG repeat length ≥70. A genetic test confirming DM1 is not required for entry. A DNA sample will be obtained from all subjects for DM1 genetic testing. If this test does not show an expanded repeat in the DM1 gene the subject will be withdrawn from the study.
• Ability to complete a 6 minute walk test (ankle-foot braces are allowed, but cane and walker are not allowed).

You may not qualify if:

• Clinically significant infections or medical illness from 30 days prior to Visit 1.
• History of, or abnormal laboratory values indicative of, significant medical, neurologic (other than DM1), or psychiatric disorders that might preclude participation in the study in the opinion of the Investigator.
• A recent history of any of the following conditions on routine blood screening: white blood cells \<3000, platelets \<100,000, hematocrit \<30%, symptomatic liver disease with serum albumin \<3 g/L, or creatinine \>1.5 mg%.
• Any of the following medical conditions: uncontrolled or insulin dependent diabetes mellitus, congestive heart failure, symptomatic cardiomyopathy, symptomatic coronary artery disease, cancer (other than skin cancer) within the prior 5 years, multiple sclerosis, or other serious medical illness.
• Myotonic dystrophy type 2 or other diseases that mimic the signs or symptoms of DM1. Coexistence of other neuromuscular disease.
• Thyroid dysfunction that is untreated (if on thyroid hormone replacement therapy, need to have adequate and stable replacement over the previous 6 months).
• Second or third degree heart block, atrial flutter, atrial fibrillation, ventricular tachycardia, or is receiving medication for the treatment of cardiac arrhythmia.
• Liver or kidney disease requiring ongoing treatment.
• Have a seizure disorder.
• Drug or alcohol abuse within 3 months of Visit 1.
• Women who are pregnant or who plan to become pregnant during the study's duration.
• Treatment with supplemental anabolic hormones (including testosterone, human recombinant growth hormone, human recombinant insulin like growth factor-1, other anabolic drug mixtures) during the previous 12 months.
• History of bleeding tendency or ongoing oral anticoagulation.
• Hypersensitivity to local anesthetics or components thereof to be used in the biopsy procedure.
• Participation in any investigational treatment study within 6 months prior to Visit 1.

Sponsors & Collaborators

• University of Rochester: lead
• University of Florida: collaborator
• University of Kansas Medical Center: collaborator
• Ohio State University: collaborator
• Stanford University: collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Biogen: collaborator
• Muscular Dystrophy Association: collaborator
• Myotonic Dystrophy Foundation: collaborator
• The Marigold Foundation: collaborator

Study Sites (6)

Stanford University

Stanford, California, 94305, United States

Location

University of Florida

Gainesville, Florida, 100236, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

NIH

Bethesda, Maryland, 20892, United States

Location

University of Rochester

Rochester, New York, 14642, United States

Location

Ohio State University

Columbus, Ohio, 43221, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be used for routine laboratory testing, such as tests of blood cells, chemistry, and ability to form blood clots. Blood samples will be used for genetic testing (DNA testing) and to identify biomarkers. Needle muscle biopsies will be obtained from the tibialis anterior, a muscle in the front of the leg, next to the shin.

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Charles A Thornton, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 2, 2014
• First Posted: December 4, 2014
• Study Start: November 1, 2013
• Primary Completion: July 1, 2017
• Study Completion: October 1, 2017
• Last Updated: October 26, 2017

Record last verified: 2017-02

Locations

US (6)