UR Medicine / Neurology / National Registry for Myotonic Dystrophy & Facioscapulohumeral Dystrophy / Research Studies / 2015-2016

2015-2016

Project title:	Genetics in FSHD
Investigator:	Rabi Tawil, MD, University of Rochester Medical Center
Approval:	11/2016
Study Type:	Recruitment
Description:	The goal of this study is to confirm the genetic status of Registry members with suspected FSHD. Genetic testing (DNA testing) by a blood draw can determine whether a patient has FSHD1, FSHD2, or neither. Clinical trials for FSHD often require patients to have had a genetically confirmed FSHD to participate. This study will increase the number of Registry members able to participate in future clinical trials.

Project title:	Prospective Tissue and MRI Biomarker Study in FSHD
Investigator:	Leo Wang, MD, University of Washington Medical Center
Approval:	7/2016
Study Type:	Recruitment
Description:	The main goal of the study is to develop and test the best ways to measure FSHD symptoms in patients. Better knowledge and use of these measures is needed to help determine how well future treatments and disease specific drugs are working.

Project title:	Utilizing Existing Community Interventions and Infrastructure to Promote Healthy Aging in Persons with Long-Term Physical Disabilities
Investigator:	Ivan Robert Molton, Ph.D, University of Washington
Approval:	10/2015
Study Type:	Recruitment
Description:	This study is looking at whether a health and wellness program, called Project Enhance, is helpful for adults with a long-term physical disease or disability. Utilizing Existing Community Interventions and Infrastructure to Promote Health Aging in Persons with Long-Term Physical Disabilities.

Project title:	The Relationship of Electrical Impedance Myography to Muscle Structure and Function in FSHD
Investigator:	Jeff Statland, MD; University of Kansas Medical Center
Approval:	10/2015
Study Type:	Recruitment
Description:	Dr. Statland and his research team are conducting a study using electrical impedance myography to measure underlying changes in muscle and how changes relate to strength and progression in FSHD.
Results available	Electrical impedance myography in FSHD

Project title:	Pain Medication Use and Adherence in Patients with DM and FSHD
Investigator:	Amy L. Parkhill, PhD, St. John Fisher College and Bryan Fitzgerald (PharmD Candidate, 2016)
Approval:	3/2015
Study Type:	Recruitment
Description:	The main goal of this study is to better understand and characterize pain in myotonic dystrophy and FSHD. Information from this study may also increase pharmacists’ awareness of DM and FSHD, improve discussions about pain management between patients and care providers, and lead to new treatments.