SOURCE: Charcot-Marie-Tooth Association

September 22, 2014 09:00 ET

The CMTA Forms Alliance With Genzyme to Pursue Development of a Therapy for Hereditary Neuropathy

CHICAGO, IL--(Marketwired - Sep 22, 2014) - The Charcot-Marie-Tooth Association (CMTA), a registered 501c3 serving the hereditary neuropathy patient community (, announces the formation of an alliance with Genzyme, a Sanofi company (, to discover therapies for CMT1A.

CMT1A is the most common Charcot-Marie-Tooth (CMT) disorder, comprising at least 60 percent of all patients with CMT Type 1. This hereditary neuropathy is caused by a duplication of the gene for Peripheral Myelin Protein 22 (PMP22), located on Chromosome 17, and is inherited in an autosomal dominant fashion.

CMT1A usually presents with progressive symptoms including muscle weakness and atrophy, loss of balance, and sensory loss. There are currently no available therapies to treat either the initiation or progression of the disease, and patients often resort to bracing for ankle support.

"This relationship represents another example of collaboration between Genzyme and a patient association that leverages the relative strengths of the respective organizations. We are excited to have the opportunity to work with the leading scientists of the CMTA to identify potential therapies for patients with Charcot-Marie-Tooth," said Seng H. Cheng, Ph.D., Head of Rare Disease R&D at Genzyme.

Under the agreement, a close collaboration will be formed between the CMTA STAR network of investigators and Genzyme that will leverage the Sanofi U.S. high-throughput screening facility in Tucson, Arizona. Assays developed at the University of Wisconsin and the NIH will be used to screen compound libraries that include more than 2 million small molecules. Additional investigative STAR participants include laboratories at the University of Iowa and University of Buffalo, which will participate via the sharing of assays specific to the regulation of PMP22 in peripheral nerves. Preclinical investigation of the in vivo activity of select molecules will be pursued in rat and mouse models of CMT1A through the CMTA's earlier announced service relationship with Psychogenics ( 

The ambitious aim of this consortium effort driven by the CMTA will be to identify small molecule candidate therapies for CMT1A, which can be further advanced into clinical testing in a patient trials network supported by the NIH and the CMTA.

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