NCT02308657

Multicenter Observational Study of Myotonic Dystrophy Type 1

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 120 (actual)
• Sponsor: University of Rochester · Academic / Other
• Sex: All
• Age: 18 Years – 70 Years
• Healthy volunteers: Not accepted

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).

Conditions

• Myotonic Dystrophy Type 1

Timeline

• Start date: 2013-11-01
• Primary completion: 2017-07-01
• Completion: 2017-10-01
• First posted: 2014-12-04
• Last updated: 2017-10-26

Locations

6 sites across 1 country: United States