Multicenter Observational Study of Myotonic Dystrophy Type 1

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Brief Title

Multicenter Observational Study of Myotonic Dystrophy Type 1

Official Title

A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1

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.
    

Detailed Description

      Participants in the study will come to the study site for 3 study visits. Each visit will
      take most of the day. Each visit will include a series of evaluations to determine how the
      person is affected by myotonic dystrophy. The results from the initial study visit will be
      compared to the second study visit after 3 months and the third study visit after 1 year. A
      small needle biopsy of a leg muscle will be performed at the first and second study visits
      (but not at the third visit). After the second study visit, participants will be asked to
      make a phone call every day for 30 days to report their symptoms and muscle strength (grip
      strength).
    


Study Type

Observational


Primary Outcome

Needle Muscle Biopsy RNA Biomarkers

Secondary Outcome

 Myotonia

Condition

Myotonic Dystrophy Type 1



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

120

Start Date

November 2013

Completion Date

October 2017

Primary Completion Date

July 2017

Eligibility Criteria

        Inclusion Criteria:

          -  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).

        Exclusion Criteria:

          -  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.

          -  Inability or unwillingness to undergo any of the study-specific procedures or
             assessments, including needle muscle biopsies.

          -  Medical or other unspecified reasons that in the opinion of the Investigator makes the
             patient unsuitable for enrollment.

          -  Treatment with any of the following anti-myotonia medications within 8 weeks prior to
             Visit 1: phenytoin, carbamazepine, procainamide, disopyramide, nifedipine,
             acetazolamide, clomipramine, imipramine, mexiletine

          -  Treatment with corticosteroids within 8 weeks prior to Visit 1.
      

Gender

All

Ages

18 Years - 70 Years

Accepts Healthy Volunteers

No

Contacts

Charles A Thornton, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02308657

Organization ID

RSRB48991

Secondary IDs

U54NS048843

Responsible Party

Principal Investigator

Study Sponsor

University of Rochester

Collaborators

 University of Florida

Study Sponsor

Charles A Thornton, MD, Principal Investigator, University of Rochester


Verification Date

February 2017