Peripheral Neuropathies

Research Briefs: New Tools for CMT

Charcot-Marie-Tooth disease (CMT) is a peripheral nerve disorder that can be caused by mutations in more than 50 different genes. Recent research has resulted in several new tools that will help advance the work of researchers in this field.

Neuromuscular Disease Research Discussed at 2012 AAN Meeting

Top scientists and clinicians from around the world are discussing the latest research in neuroscience, and the care of individuals with nerve and muscle diseases, at the 2012 annual meeting of the American Academy of Neurology in New Orleans, April 21-28.

MDA 2012 Conference Report: Best Practices

Several experts presented their views of "best practices" for care of people with neuromuscular disorders at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7.

Many questions remain about optimal care in these disorders, but it's clear that attention to heart and respiratory function are of paramount importance.

This article looks at:

MDA 2012 Conference Report: Genetics and Immunology Update

More than 500 physicians, allied health care professionals and MDA staff attended the MDA's 2012 Clinical Conference in Las Vegas, March 4-7.

The program emphasized:

Repligen Launches Italian Trial of Experimental Drug for FA

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.

MDA Genetic Counseling Webinar Answers Key Questions

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.

MDA Commits $12 Million to Neuromuscular Disease Research

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.

Frataxin 'Fusion' Protein Rescues FA Mice

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).

Researchers Studying CMT1B, CMT2A, CMT4A, CMT4C, Others

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.

CMT Genetics Study Seeks Participants

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.

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