Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension
Virginia Commonwealth University
Summary
Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy. It is characterized by progressive weakness and myotonia, which preferentially affects the craniofacial, hand, and distal leg muscles. Many patients also experience difficulties with cognition, cardiac arrhythmias, respiratory failure, or cataracts. Currently there is no treatment to slow progression or reverse the symptoms.
Description
The goal of this observational study is to characterize long-term disease progression over at least 4 years in at least 1,000 adults with myotonic dystrophy type 1 (DM1). The main questions this study aims to answer are: 1. How do clinical measures, such as walking speed, hand function, and muscle strength, change over a multi-year period in people with DM1? 2. Can long-term changes in slowly progressive measures, like heart rhythms (ECG) and lung function (FVC), be accurately captured and used as biomarkers for the disease over time?
Eligibility
- Age range
- 18–70 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Age 18 to 70 years (inclusive) * Written, voluntary informed consent must be obtained prior to any study procedures. In cases where a Legally Authorized Representative (LAR) provides consent, verbal assent will be obtained from the subject, as determined by the investigator and documented directly on the consent form. Capacity to consent will be determined by the neurologist at the Baseline visit and will be signed off on the Inclusion/Exclusion checklist. * Clinical diagnosis of DM1 based on research criteria or positive genetic test. The research criteria for clinical…
Location
- Virginia Commonwealth UniversityRichmond, Virginia