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