Status:
COMPLETED
Multicenter Observational Study of Myotonic Dystrophy Type 1
Lead Sponsor:
University of Rochester
Collaborating Sponsors:
University of Florida
University of Kansas Medical Center
Conditions:
Myotonic Dystrophy Type 1
Eligibility:
All Genders
18-70 years
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...
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 ...
Eligibility Criteria
Inclusion
- 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 If this test does not show an expanded repeat in the DM1 gene the subject will be withdrawn from the study.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
- 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.
Key Trial Info
Start Date :
November 1 2013
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 1 2017
Estimated Enrollment :
120 Patients enrolled
Trial Details
Trial ID
NCT02308657
Start Date
November 1 2013
End Date
October 1 2017
Last Update
October 26 2017
Active Locations (6)
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1
Stanford University
Stanford, California, United States, 94305
2
University of Florida
Gainesville, Florida, United States, 100236
3
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
4
NIH
Bethesda, Maryland, United States, 20892