|Principal Investigator: Nicholas Johnson|
|Keywords: Myotonic Dystrophy , DM1 , Dystrophia Myotonia , DM||Department: Neurology|
|IRB Number: 00079580||Co Investigator: Heather Hayes|
|Sub Specialties: Muscular Dystrophy|
|Recruitment Status: Not yet recruiting|
We propose to longitudinally characterize the symptoms and functional outcomes associated with DM1 disease progression in adulthood to develop a model for symptom development and progression. This study will enroll twenty adults with Myotonic Dystrophy type 1 between the ages of 18 and 55.
To determine in a prospective manner important clinical endpoints for adults with DM1 and establish reliability, validity, and responsiveness of these endpoints at differing stages of the disease. These endpoints include medical morbidity and mortality, neuropsychological function, oral facial weakness, muscle weakness, respiratory function, gastrointestinal function, and cardiac conduction. These endpoints will be evaluated for feasibility, test-retest reliability, and responsiveness to change. Determining these profiles will provide accurate and impactful endpoints that may be extended to therapeutic trials.
To validate the disease specific, patient reported outcome measure developed for DM1 by assessing its correlation with generic quality of life measures and functional outcome measures using the cross sectional and longitudinal data obtained in Aim 1. This validation process will assess the test-retest reliability, responsiveness of the patient-reported outcome measure-to-measure change, and the validity of the measurement compared to functional outcome measures and generic quality of life scores. In addition, analysis of the patient completed instruments will assess the ability of various proxies to measure symptom impact and concordance between the proxy and patient instruments. At the completion of this Aim we will have a reliable, valid, and responsive patient reported outcome measure capable of measuring the aggregate symptom impact in this multi-system disease.
To evaluate potential biomarkers, including RNA splicing ratios We will assess the ability to obtain accurate RNA splicing ratios and microRNA differences in blood samples.
To determine the participants' knowledge level regarding DM1.
Characteristics of subject population: Both male and female subjects will be recruited.
This study proposes a longitudinal study of 20 adults with DM1.
a. Age 18-55
b. Genetic confirmation of DM1
c. Onset of DM1 symptoms after the age of 12
d. Not on Mexiletine
e. Not on Coumadin or other anticoagulants.
- Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator
- Significant trauma within one month