| Project title: |
Coriell cell repositories in myotonic dystrophy |
| Investigator: |
Richard T. Moxley III, MD, University of Rochester; Lorraine Toji, PhD, Coriell Cell Repositories |
| Approval: |
12/2009 |
| Study Type: |
Recruitment |
| Description: |
The purpose of this study is to collect blood samples from patients with myotonic dystrophy and family members to create cell lines which will be stored confidentially in the Coriell Cell Repository. These cell lines will provide an important resource for researchers studying myotonic dystrophy, and will also help ensure the quality of genetic testing for the myotonic dystrophy community. Subjects will provide blood samples which will be stored anonymously and will be available for use in research, teaching, and as standards in clinical genetics laboratories. |
| Results Available |
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 genetic testing (2013) |
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| 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 physical 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. |
| Results Available |
Pain location and intensity impacts function in persons with myotonic dystrophy type 1 and FSHD with chronic pain (2014) |
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| 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). |
| Results Available |
Cerebral and muscle MI abnormalities in myotonic dystrophy (2012) |
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| 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. |
| Results Available |
Myotonic dystrophy health index: correlations with clinical tests and patient function (2016) |
| |
| 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). |
| Results Available |
Cerebral and muscle MI abnormalities in myotonic dystrophy (2012) |
| |
| 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. |
| Results Available |
Coats syndrome in FSHD type 1: frequency and D4Z4 contraction size (2013) |