Research Studies, 2001-2003

Project title: Discussion forum for a Biological Sciences Genetics and Genomics class
Investigator: Erica Pantages, PhD. Harvard University
Approval: 11/2003
Study Type: Recruitment
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: Quality of Life in Persons with Disabilities
Investigator: Craig McDonald, MD. University of California, Davis
Approval: 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
Approval: 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
Approval: 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
Approval: 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.

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