Current Research Studies (2013 - 2014)

Project title: Medication Adherence and Compliance in Members of the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Dystrophy (FSHD) Patients and Family Members
Investigator: Amy L. Parkhill, PhD; Wegmans School of Pharmacy, St. John Fisher College
Approval: 1/2014
Study Type: Recruitment
Description: The main goal of the study is to understand the factors influencing medication compliance or why patients with DM and FSHD may or may not take their medications as prescribed. This information is needed to expand our knowledge on the unique issues that affect the care of DM and FSHD patients. The secondary objective of the study is to understand statin use (a class of drugs used to lower cholesterol) in members of the Registry.
Project title: Health Endpoints and Longitudinal Progression in Congenital Myotonic Dystrophy (HELP-CDM)
Investigator: Nicholas Johnson, MD; University of Utah
Approval: 11/2013
Study Type: Recruitment
Description: Dr. Johnson and his research team are trying to better understand the best way to measure symptoms in children with congenital myotonic dystrophy (CDM) and determine how these symptoms change over time. This information may also help plan future studies to test treatments for CDM. The research team is recruiting 40 children with CDM ages 6 months to 13 years to participate at the University of Utah.
Project title: The Impact of Pregnancy on Myotonic Dystrophy
Investigator: Nicholas Johnson, MD; University of Utah
Approval: 11/2013
Study Type: Recruitment
Description: The study team is recruiting women between 18 and 50 to participate in a survey about pregnancy. This study aims to better understand the complications and worsening of symptoms associated with myotonic dystrophy type 1 and type 2 during pregnancy. The study may lead to a better understand of whether any interventions affect the development of these complications.
Project title: A multicenter observational study to assess the variability of molecular biomarkers and clinical measures in patients with myotonic dystrophy type 1
Investigator: Charles Thornton, MD; University of Rochester
Approval: 10/2013
Study Type: Recruitment
Description: The main goal of this study is to help researchers and patients become “trial ready” and better prepared for treatment trials in myotonic dystrophy that are anticipated in the near future. Investigators at the University of Rochester, with feedback and funding from several stakeholders, has created a large network of researchers and patients to develop and test the best ways to measure patient symptoms and better understand how symptoms change over time. This information is essential for planning future studies to evaluate treatments for myotonic dystrophy. 100 patients with myotonic dystrophy type-1 will participate in this study. Patients participate at one of the five participating centers: Ohio State, Stanford, University of Kansas, University of Florida, and University of Rochester.