Research

National Registry Approved Protocols

This page provides information on the research protocols approved by the National Registry’s Scientific Advisory Committee. Researchers interested in using the Registry must submit an application. If approved, the Registry will assist investigators by announcing the project to potential subjects (known as “Recruitment” assistance) or by providing deidentified data from the data base (known as “Anonymous data”). For more information about these types of studies, please refer to the FAQs

What kinds of studies are being conducted that I might be eligible for?

Members will be notified by mail when a study is approved for which they may be eligible. Letters are sent to members only when the investigator is ready to recruit subjects for participation. You will not be notified when a researcher requests anonymous data, nor when the Inclusion/Exclusion criteria indicate that you would not be eligible to participate.

The following projects have been approved (most recently approved studies are listed first):

Investigator:	Craig Campbell, MD FRCPC, Children’s Hospital of Western Ontario
Project Title:	Characteristics of Congenital Myotonic Dystrophy patients in a passive surveillance registry
Approved:	04/2006
Study Type:	Deidentified data
Description:	The aim of this study is to better understand the demographic and medical characteristics of Registry members diagnosed with Congenital Myotonic Dystrophy. This preliminary study may prepare for and encourage future research in the area of Congenital Myotonic Dystrophy.
Investigator:	Emma Ciafaloni, MD. University of Rochester
Project Title:	The Course and Outcome of Pregnancy and Delivery in Women with FSH Muscular Dystrophy.
Approved:	12/2004
Study Type:	Recruitment
Description:	Women are being sought to complete surveys to increase the knowledge about the effects of pregnancy, delivery and post- partum recovery on the course of muscular dystrophy. The ultimate goal is to improve counseling, family planning and care of pregnant women with FSHD.
Investigator:	Craig McDonald, MD. University of California, Davis.
Project Title:	Promotion of Health and Wellness Through Community Recreation and Exercise: Impact of Impairment, Pain, Self-Efficacy and Environmental Barriers
Approved:	10/2004
Study Type:	Recruitment
Description:	Volunteers for this study will complete a detailed questionnaire asking about health status, physical activity, lifestyle issues, pain, nutrition, and diet. The goal is to better understand the factors that contribute to health, wellness and community integration in persons with slowly progressing neuromuscular diseases.
Investigator:	Richard T. Moxley III, MD. University of Rochester.
Project Title:	Effects of SomatoKine in Myotonic Dystrophy Type 1 (DM1).
Approved:	9/2004
Study Type:	Recruitment
Description:	This trial will determine if SomatoKine is safe and well tolerated in subjects with DM1. It will also determine whether SomatoKine improves muscle strength, function and muscle mass in subjects with DM1.
Investigator:	Emma Ciafaloni, MD. University of Rochester
Project Title:	The Pathophysiology of Hypersomnolence in Myotonic Dystrophy.
Approved:	2/2004
Study Type:	Recruitment
Description:	This project will study the differences between individuals with Myotonic Dystrophy and FSHD with regards to their tendency to fall asleep during different daytime activities.
Investigator:	Michael Rose, MD. King’s College Hospital, England
Project Title:	US Validation of a Neuromuscular Disease Specific, Individualized, Quality of Life Measure (The INQoL US Project).
Approved:	2/2004
Study Type:	Recruitment
Description:	This project will study whether patients with neuromuscular diseases living in the US answer questions on a quality of life survey differently than patients with similar diagnoses who live in England.
Investigator:	Erica Pantages, PhD. Harvard University
Project Title:	Discussion forum for a Biological Sciences Genetics and Genomics class.
Approved:	11/2003
Study Type:	Recruitment
Description:	This opportunity sought volunteers with Myotonic Dystrophy to participate in a panel discussion to provide students with a richer perspective of what it is like to live with Myotonic Dystrophy.
Investigator:	Craig McDonald, MD. University of California, Davis
Project Title:	Quality of Life in Persons with Disabilities.
Approved:	7/2003
Study Type:	Recruitment
Description:	This project will study the frequency and severity of pain problems that occur in patients with disabilities, especially Myotonic Dystrophy and FSHD.
Investigator:	Rabi Tawil, MD. University of Rochester
Project Title:	Position Effect and Vascular Adaptation in FSHD.
Approved:	2/2003
Study Type:	Recruitment
Description:	This project will study the genes affected in FSHD, looking at how missing pieces of DNA affect the functions of nearby genes.
Investigator:	Charles Thornton, MD. University of Rochester
Project Title:	Functional Genomics of Myotonic Dystrophy.
Approved:	2/2003
Study Type:	Recruitment
Description:	This project will study how the abnormal Myotonic Dystrophy gene can cause muscle weakness, muscle stiffness and other signs of myotonic dystrophy.
Investigator:	John Kissel, MD. The Ohio State University
Project Title:	Clinical Trial of Albuterol and Oxandrolone in FSH Dystrophy.
Approved:	2/2003
Study Type:	Recruitment
Description:	In this study, two drugs with muscle building qualities will be given alone or in combination to determine whether this approach is an effective treatment for people with FSHD.