2/11/2008: CMTA 2007 Research Funding Report

In 2007, the CMTA disbursed a total of $452,500 to fund ongoing research and awarded one new three-year, $100,000/year grant to Dr. Michael L. Garcia.

Ongoing Research

The ascorbic acid clinical trials begun in 2006 at Wayne State University, Johns Hopkins and the University of Rochester, NY, are ongoing and will continue until 2009. In 2007, the CMTA provided $137,500 out of a total commitment of $550,000 to fund these trials, which are investigating the potential therapeutic effects of Vitamin C for CMT type 1A.

In addition, the CMTA provided a total of $300,000 to fund the research of the following three investigators:

• Dr. James Lupski, at Baylor College of Medicine, for his project entitled, "Molecular Therapy and Management for CMT;"
• Dr. Stephan Zuchner, at the Miami Institute of Human Genomics, for his project entitled, "The Function of Dynamin 2 Mutations in Peripheral Neuropathies;" and
• Dr. Steven Scherer, at the University of Pennsylvania , who is studying "A high-throughput screen for Kv1.3b antagonists."

The CMTA also provided an additional $15,000 to Conemaugh Health Systems to fund the CMT Prevalence Study, which has now been expanded to include eight counties in Western Pennsylvania.

New Research: Dr. Michael L. Garcia Awarded Three-Year Grant to Study Disease Pathogenesis in CMT2E

In 2007, the Charcot-Marie-Tooth Association awarded a new $100,000 per-year grant to Dr. Michael L. Garcia, from the University of Missouri, Columbia. His project is entitled, "Mechanisms of disease pathogenesis in neurofilament linked Charcot-Marie-Tooth disease" and will be funded for three years.

Dr. Garcia's summary of his study states:

Charcot-Marie-Tooth (CMT) is the most common inherited disease of the peripheral nervous system. CMT can be divided into forms that affect the insulating cells of peripheral nerves (CMT1) or forms that directly affect peripheral nerves (CMT2). CMT2 is further divided into five sub-types, CMT2 A through E. We are specifically interested in one of these subtypes (CMT2E). Mutations in a cytoskeletal protein, neurofilament light (NF-L), have been linked to CMT2E. Nerves rely upon cytoskeletal proteins, such as neurofilaments, to maintain their axonal diameter and functioning.

We are proposing to generate two independent laboratory models that will express two different disease-linked NF-L mutations. These mutations are located in different functionally significant regions of NF-L. We will analyze the integrity and functioning of the peripheral nerves and their cytoskeleton. These laboratory models will provide insight into pathogenesis of neurofilament-linked diseases as well as the variable onset and severity of disease.

Thanks for Your Support

With the money paid out in 2007, the CMTA has now funded nearly $2 million in research aimed at identifying and understanding the causes and disease processes of CMT.

We, and everyone affected by CMT, would like to thank all of you who have given generously in support of these efforts.