Peripheral Neuropathies

(Update 9/14/11: The 2011 scholarship winners have been selected. To view a list of winners visit www.deshae.org/cmms/awards/2011/scholars.pdf. Applications for quality of life grants continue to be accepted and are awarded on an ongoing basis.)

Charcot-Marie-Tooth disease

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.

Charcot-Marie-Tooth disease

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.

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Ruthie B. Goose is by no means your average goose.

Ruthie has very high expectations of herself — specifically to fly higher than any other bird has flown before.

Ruthie’s resolution and her efforts to fly to 37,901 feet are the subject of a book written by a 10-year-old girl and her father, both of whom have Charcot-Marie-Tooth disease (CMT).

Results from a clinical trial conducted in Spain involving 20 individuals with Friedreich's ataxia (FA) show that a combination therapy using two drugs, idebenone and deferiprone (DFP), demonstrated a "stabilizing effect" in neurological function and reduced abnormal heart-muscle enlargement in participants who received the two-drug combo for a period of 11 months.

Duchenne muscular dystrophy