UR Medicine / Neurology / National Registry for Myotonic Dystrophy & Facioscapulohumeral Dystrophy / Research Studies / 2010-2012

2010-2012


Project title:	A Randomized, Placebo-Controlled, Clinical Efficacy Trial of Mexiletine in Myotonic Dystrophy Type-1
Investigator:	Richard T. Moxley III, MD, University of Rochester
Approval:	4/2012
Study Type:	Recruitment
Description:	This study aims to learn more about a potential symptomatic therapy for myotonic dystrophy type-1 (DM1). The study may help determine if the drug mexiletine improves walking, myotonia (delayed grip release), strength, pain, functionality, cardiac conduction irregularities, and quality of life in DM1.
Results Available	More Information
Project title:	Clinical features, biology, and quality of life in infantile FSHD
Investigator:	Jean K. Mah, MD, MSc, University of Calgary
Approval:	3/2012
Study Type:	Recruitment
Description:	The purpose of this study is to learn more about the clinical characteristics, quality of life, and biology of the early childhood form of FSHD. The study will also help develop better ways to measure muscle mass and prepare for future studies in FSHD.
Results Available	More information

Project title:	Patient perspectives: a survey about participating in DM research studies
Investigator:	Richard T. Moxley III, MD, University of Rochester; Jeanne Dekdebrun, MS, University of Rochester
Approval:	12/2011
Study Type:	Recruitment
Description:	The goals of this survey are to better understand how researchers can improve recruitment and enrollment into clinical studies, and how we can better utilize each patient's willingness to help us prepare for future treatment trials.

Project title:	The prevalence and spectrum of medication use in myotonic dystrophy
Investigator:	Richard T. Moxley III, MD, University of Rochester; Amy Parkhill, PhD, St. John Fisher College
Approval:	11/2011
Study Type:	Deidentified data
Description:	In this study, researchers and pharmacy students are analyzing anonymous data in the Registry related to medications and clinical symptoms. The researchers are categorizing these medications and comparing usage amongst DM and FSHD patients, and information reported by the general public.

Project title:	Pathogenesis and Progression in Muscular Dystrophy
Investigator:	Tetsuo Ashizawa, MD, University of Florida
Approval:	3/2011
Study Type:	Recruitment
Description:	The purpose of this study is to learn more about the causes of muscle weakness and myotonia in myotonic dystrophy (DM). The study also aims to determine the best ways to measure changes in symptoms of DM.

Project title:	Predictors of cancer development in myotonic dystrophy (DM)
Investigator:	Shahinaz Gadalla, MBBch, PhD, National Cancer Institute
Approval:	3/2011
Study Type:	Deidentified data
Description:	The goal of this project is to study the characteristics of myotonic dystrophy (DM) patients with history of cancer. The investigators will analyze deidentified data in the Registry to study clinical and genetic factors that may be associated with cancer development in DM.
Results Available	Hypothesis: neoplasms in myotonic dystrophy (2009) Cancer risk among patients with myotonic muscular dystrophy (2011)Correlates of tumor development in patients with myotonic dystrophy (2012) Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis (2013)

Project title:	Quality of Life in myotonic dystrophy type 2 (DM2)
Investigator:	Chad Heatwole, MD, University of Rochester
Approval:	1/2011
Study Type:	Recruitment
Description:	This study aims to determine what issues and symptoms are most important to patients with DM2. Subjects will be asked to complete a survey to identify the issues that have the greatest impact on their quality of life.
Results Available	Patient-reported impact of symptoms in myotonic dystrophy type 2 (2015)

Project title:	Childhood-Onset Hearing Loss in FSHD
Investigator:	Katherine Mathews, MD, University of Iowa
Approval:	1/2011
Study Type:	Recruitment / Deidentified data
Description:	The goal of this study is to describe the clinical and genetic characteristics of patients with FSHD who have experienced early onset hearing loss. The investigators will analyze deidentified data in the Registry and will ask subjects to complete a survey to study characteristics associated with hearing loss in FSHD.

Project title:	Burden and Functional Ability in FSHD
Investigator:	Jeff Statland, MD, University of Rochester
Approval:	1/2011
Study Type:	Deidentified data
Description:	This project is studying changes in disease burden and symptoms by looking at deidentified data from Registry members diagnosed with FSHD. The goal of this study is to provide a better understanding of the natural history of the disease which may have implications for improving patient care.
Results Available	Risk of functional impairment in FSHD (2014)

Project title:	Quality of life in FSHD
Investigator:	Chad Heatwole, MD, University of Rochester
Approval:	7/2010
Study Type:	Recruitment
Description:	This study aims to determine what issues and symptoms are most important to patients with FSHD. Subjects will be asked to complete a survey to identify the issues that have the greatest impact on their quality of life.

Project title:	Quality of life in myotonic dystrophy type 1 (DM1)
Investigator:	Chad Heatwole, MD, University of Rochester
Approval:	1/2010
Study Type:	Recruitment
Description:	This study aims to determine what issues and symptoms are most important to patients with myotonic dystrophy type 1. Subjects will be asked to complete a survey to identify the issues that have the greatest impact on their quality of life.
Results Available	Patient-reported impact of symptoms in myotonic dystrophy type 1 (2012) Myotonic dystrophy health index: initial evaluation of a disease-specific outcome measure (2014) Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy (2016)