Peripheral Neuropathies

Experimental Compound for FA Hits Its Molecular Target

Scientists at the Scripps Research Institute in La Jolla, Calif., and the Repligen Corporation in Waltham, Mass., have identified the precise biochemical brake that limits production of a needed protein in Friedreich's ataxia (FA) and determined that this brake is specifically targeted by an experimental compound being developed to treat this disease. MDA is supporting Repligen to develop this drug.

Skydiver with CMT

“You take one look out that door … and it’s a long way down.”

In fact it was 14,000 feet down, give or take a foot or two, for Mike Crowe and members of the U.S. Army’s elite Golden Knights precision parachuting team -– a record high for the team in tandem jumping.

Crowe, 59, of Louisville, Ky., dropped from the plane and into the sky linked to Sgt. First Class Mike Elliott, otherwise known as the tandem master.

CMT and Vitamin C

A recent trial has shown inconclusive results from various doses of vitamin C (ascorbic acid) in patients with the peripheral nerve disease type 1A Charcot-Marie-Tooth disease (CMT1A), and the jury remains out on this form of treatment, says Michael Shy, an MDA grantee at Wayne State University in Detroit.

Jury Still Out on Value of Vitamin C in CMT1A

A recent trial has shown inconclusive results from various doses of vitamin C (ascorbic acid) in patients with the peripheral nerve disease type 1A Charcot-Marie-Tooth disease (CMT1A), and the jury remains out on this form of treatment, says Michael Shy, an MDA grantee at Wayne State University in Detroit.

Kids' Cool Chair Creation

When a group of Wethersfield (Conn.) High School students was brainstorming ideas for a science project, they looked no further than team member Griffin Latulippe for an idea that vaulted them into the international spotlight.

FA Research: Idebenone Not Effective

On May 19, 2009, Santhera Pharmaceuticals reported that a phase 3 trial of its idebenone compound Catena showed the drug was not associated with a statistically significant benefit in 70 children between 8 and 17 years old with Friedreich's ataxia who took it for six months. (See the company's press release, Santhera's US Phase III IONIA Trial in Friedreich's Ataxia Misses Primary Endpoint.)

CMT Research: Gene Benefits Mice

Zarife Sahenk at Nationwide Children's Hospital and Ohio State University in Columbus, and colleagues, found mice with a disease resembling type 1A Charcot-Marie-Tooth disease (CMT) benefited from a transfer of genes for the neurotrophin 3 protein. CMT1A is caused by a duplication of the PMP22 gene.

Jerry Mendell, who has received many MDA research grants and co-directs the MDA clinic at Nationwide Children's, was part of the study team, as was Brian Kaspar, who has MDA support at Nationwide.

Stem Cells to Nerve Cells

Researchers at the Burnham Institute for Medical Research in La Jolla, Calif., and the University of California at Los Angeles, say they've developed immature nerve cells that are flexible enough to become multiple nervous-system cell types but committed enough not to become other types of cells or form tumors.

CMT Research Network

In January, MDA began funding development of the North American CMT Network to provide an infrastructure for clinical research in Charcot-Marie-Tooth disease (CMT) and aid researchers in locating potential participants for clinical studies.

An early goal of the network is to establish scoring systems for functional evaluations in children with CMT.

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