Peripheral Neuropathies

The biopharmaceutical company Repligen Corp., headquartered in Waltham, Mass., has launched a phase 1 clinical trial to test its experimental compound, RG2833, in adults with Friedreich's ataxia (FA). The trial is the first of a therapy specifically developed to treat the underlying molecular cause of FA.

The phase 1 trial is being conducted at San Luigi Gonzaga University Hospital in Turin, Italy, and will test the safety of the drug.

Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing.

MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.

A research team has demonstrated that a cell-penetrating molecule called TAT transported human frataxin protein to its proper place in cells, where it normalized growth, improved heart structure and function, and increased survival rate and life span in a mouse model of severe Friedreich’s ataxia (FA).

A large-scale study, supported in part by MDA, seeks to determine the natural history (general disease course) of four subtypes of Charcot-Marie-Tooth disease (CMT), with particular emphasis on correlations between genetic mutations and symptoms. The four subtypes are CMT1B, CMT2A, CMT4A and CMT4C.

Researchers supported in part by MDA are seeking people with Charcot-Marie-Tooth disease (CMT) to participate in a study to identify genetic modifiers of the type 1A form of CMT (CMT1A) and determine previously unknown genetic causes of CMT.

When talking with Leanne Beers of Missoula, Mont., you can’t help thinking that this is one upbeat, optimistic woman.

“Even though you have muscular dystrophy, or any limitation for that matter,” she says, “it doesn’t mean you can’t accomplish the goals you want. You just may have to go about it differently. There’s no reason you can’t be happy and thrive on life.”

Stem cells have been much in the news lately, including for neuromuscular diseases.

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover 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 recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Edison drugs target FA, mitochondrial diseases