Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.
A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment) is testing ascorbic acid in CMT1A at a dosage of 4 grams per day for two years.
Moving therapeutic strategies from the laboratory to clinical trials and ultimately to the market as treatments was the theme of the MDA National Scientific Conference held March 13-16, 2011, in Las Vegas.
Some 300 people attended the conference, the first in a planned series of such MDA-sponsored meetings that will emphasize new research and current medical care. The majority of presenters and many of the audience members were current or former MDA research grantees or physicians at MDA-supported clinics.
The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association’s program.
The new grants were reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.
Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.
The study also is recruiting 30 adults with no neuromuscular disease.
Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).
Since 1993 — when mutations in the RYR1 gene were first linked to central core disease (CCD)— researchers have been trying to figure out exactly how these mutations cause the disease and what can be done to combat their deleterious effects.
Now, investigators in the United States, Canada and Germany have added an important piece to the CCD puzzle, through careful studies of mice with a particular mutation in the RYR1 gene that commonly causes human CCD.