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Charcot-Marie-Tooth Association: Success Factors Driving Industry-Patient Group Partnerships

November 6, 2014
At this year’s BIO Patient & Health Advocacy Summit, a major theme was the power of partnerships between patient advocacy groups and other stakeholders including industry, government, and academia.

One patient group which has been very successful at creating and leveraging partnerships to advance the drug development process is the Charcot-Marie-Tooth Association (CMTA), a group representing patients with Charcot-Marie-Tooth (CMT) disease. CMT is the most common hereditary motor and sensory neuropathy, affecting about 150,000 patients in the U.S.

The CMTA recently announced a new alliance with Genzyme, to discover therapies for CMT1A, the most common form of CMT disorder. Under the agreement, Genzyme will use cell assays provided by CMTA to screen more than 2 million small molecules at a high-throughput screen facility to identify promising potential drug compounds for further testing.

At the BIO Patient Health & Advocacy Summit, Tracy Cooley spoke with Susan Ruediger, CMTA’s director of development, about the success factors which lead to the CMTA-Genzyme alliance:



According to Susan, the collaboration with Genzyme is a result of CMTA’s Strategy to Accelerate Research (STAR) Initiative, which they developed five years ago in order to advance drug development for CMT. After seeking the advice of industry experts, the CMTA built a pipeline of assets to make CMT research attractive and feasible for drug companies:

  • Cell assays, which are used to test potential drug compounds for efficacy against CMT

  • Laboratory models

  • A robust patient registry

  • Measurable metrics to quantify the disease symptoms and improvements in symptoms as a result of potential interventions

  • Centers of Excellence to perform clinical trials


The CMTA then formed a group of expert advisors in each of these areas to begin building the assets they would need to advance drug development. They developed a highly-qualified cell assay for CMT1A, the most common form of CMT, which they delivered to the NIH to begin screening potential drug candidates. The CMTA also funds fellowships for two scientists at the NIH to perform research on the disease.

The NIH partnership, which had access to 40,000 compounds for testing, has identified about 4 potential drug compounds per year. The Genzyme alliance, which prospered  during meetings at the BIO International Convention over several years, has the potential to expand upon this success, using Sanofi’s high-throughput screening facility and library of over 2 million compounds.  The CMTA will build off the alliance with Genzyme to work with other stakeholders and industry to accelerate research and develop the first ever treatment for CMT.

Susan advised other patient groups looking to advance drug development for their disease to “take the bull by the horns” and ask drug companies and other potential partners, “what do I need to gather to make you interested in me?... that’s what worked for us.”