Email this pageResearch
National Registry Approved Protocols
This page provides information on the research protocols approved by the National Registry's Scientific Advisory Committee. We encourage other investigators interested in using the Registry to submit an application or contact us.
When protocols are approved, the Registry will assist investigators by announcing the project to potential subjects (known as "Recruitment" assistance) or by providing deidentified information from the data base (known as "Anonymous data"). Results from previous studies have been reported in prominent scientific journals and at several national and international research conferences. These studies and more recently approved projects are listed below.
| Project title: | Aging with a physical disability longitudinal survey |
| Investigator: | Mark Jensen, PhD, University of Washington |
| Approval: | 7/2009 |
| Study Type: | Recruitment |
| Description | This study investigates how aging affects individuals with muscular dystrophy and other phyisical disabilities. The investigators will ask subjects, including those with DM and FSHD, to complete a series of surveys about their experience with pain, fatigue, sleep, participation in daily activities and employment, social support, and mood. |
| Project title: | Structural and functional central nervous system (CNS) changes in children with myotonic dystrophy type 1 (DM1) |
| Investigator: | John Day, MD, PhD, University of Minnesota |
| Approval: | 4/2009 |
| Study Type: | Recruitment |
| Description | This study is an extension of an investigation of CNS changes in adults with myotonic dystrophy (DM) types 1 and 2. The goal of the present study is to better understand the pathology and cognitive manifestations in children with early onset DM1. The investigators will use imaging technology (brain scans) and conduct neuro-psychological tests (such as intelligence tests, language tests, and tests of memory). |
| Project title: | Pathogenesis and progression in myotonic dystrophy |
| Investigator: | Richard Moxley, III, MD, University of Rochester |
| Approval: | 4/2009 |
| Study Type: | Recruitment |
| Description | The goals of this project are to gain a better understanding of the molecular pathogenesis of myotonic dystrophy (DM) and to develop natural history data and outcome measures for therapeutic trials. |
| Project title: | Structural and functional central nervous system (CNS) changes in adults with myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) |
| Investigator: | John Day, MD, PhD, University of Minnesota |
| Approval: | 12/2008 |
| Study Type: | Recruitment |
| Description: | The goal of the study is to better understand the pathology and cognitive manifestations in the two DM subtypes.The investigators will use imaging technology (brain scans) and conduct neuro-psychological tests (such as intelligence tests, language tests, and tests of memory). |
| Project Title: | Cellular and Molecular Pathophysiology of FSHD (CAMP study) |
| Investigator: | Rabi Tawil, MD, University of Rochester |
| Approval: | 12/2008 |
| Study type: | Recruitment |
| Description: | The goals are to further study which genes may be responsible for FSHD. Investigators will correlate lab results (analysis of blood and muscle tissue) with clinical information collected during physical examinations. |
| Project Title: | Characteristics of Congenital Myotonic Dystrophy patients in a passive surveillance registry |
| Investigator: | Craig Campbell, MD FRCPC, Children’s Hospital of Western Ontario |
| 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. |
| Project Title: | The Course and Outcome of Pregnancy and Delivery in Women with FSH Muscular Dystrophy |
| Investigator: | Emma Ciafaloni, MD, University of Rochester |
| Approved: | 12/2004 |
| Study Type: | Recruitment |
| Description: | Women completed 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. |
| Project Title: | Promotion of Health and Wellness Through Community Recreation and Exercise: Impact of Impairment, Pain, Self-Efficacy and Environmental Barriers |
| Investigator: | Craig McDonald, MD. University of California, Davis. |
| Approved: | 10/2004 |
| Study Type: | Recruitment |
| Description: | Volunteers for this study completed 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. |
| Project Title: | Effects of SomatoKine in Myotonic Dystrophy Type 1 (DM1) |
| Investigator: | Richard T. Moxley III, MD, University of Rochester |
| Approved: | 9/2004 |
| Study Type: | Recruitment |
| Description: | This trial was performed to determine if SomatoKine is safe and well tolerated in subjects with DM1. Other goals were to determine whether SomatoKine improves muscle strength, function and muscle mass in subjects with DM1. |
| Project Title: | The Pathophysiology of Hypersomnolence in Myotonic Dystrophy |
| Investigator: | Emma Ciafaloni, MD. University of Rochester |
| Approved: | 2/2004 |
| Study Type: | Recruitment |
| Description: | This project studied the differences between individuals with Myotonic Dystrophy and FSHD with regards to their tendency to fall asleep during different daytime activities. |
| Project Title: | US Validation of a Neuromuscular Disease Specific, Individualized, Quality of Life Measure (The INQoL US Project) |
| Investigator: | Michael Rose, MD. King’s College Hospital, England |
| Approved: | 2/2004 |
| Study Type: | Recruitment |
| Description: | This project studied 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. |
| Project Title: | Discussion forum for a Biological Sciences Genetics and Genomics class |
| Investigator: | Erica Pantages, PhD. Harvard University |
| 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. |
| Project Title: | Quality of Life in Persons with Disabilities |
| Investigator: | Craig McDonald, MD. University of California, Davis |
| Approved: | 6/2003 |
| Study Type: | Recruitment |
| Description: | This project studied the frequency and severity of pain problems that occur in patients with disabilities, especially Myotonic Dystrophy and FSHD. |
| Project Title: | Position Effect and Vascular Adaptation in FSHD |
| Investigator: | Rabi Tawil, MD. University of Rochester |
| Approved: | 2/2003 |
| Study Type: | Recruitment |
| Description: | This project studied the genes affected in FSHD, looking at how missing pieces of DNA affect the functions of nearby genes. |
| Project Title: | Functional Genomics of Myotonic Dystrophy |
| Investigator: | Charles Thornton, MD. University of Rochester |
| Approved: | 2/2003 |
| Study Type: | Recruitment |
| Description: | This project measured how the abnormal Myotonic Dystrophy gene can cause muscle weakness, muscle stiffness and other signs of myotonic dystrophy. |
| Project Title: | Clinical Trial of Albuterol and Oxandrolone in FSH Dystrophy |
| Investigator: | John Kissel, MD. The Ohio State University |
| Approved: | 2/2003 |
| Study Type: | Recruitment |
| Description: | In this study, two drugs with muscle building qualities were given alone or in combination to determine whether this approach is an effective treatment for people with FSHD. |
Last Reviewed and Updated 10/8/2009
