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Navigating the Rare Disease World

March 1, 2013
The international orphan drug marketplace is expected to grow some 30 percent by 2014, fueled by the entrance of big pharmaceutical companies and U.S. legislation favoring development and coverage. This growth promises to improve the health of patients with debilitating and life-threatening disorders. Hoping to further the rare disease dialogue and relationship building opportunities, the 2013 Orphan Disease Forum will provide unique perspective on the orphan drug marketplace, regulatory considerations and much more.

Operating within the rare disease space can be challenging. The patients and patient advocacy organizations compete for the few disease specific financial and clinical resources. While Charcot-Marie-Tooth, (CMT) or inherited peripheral neuropathy, affects 1 in 2,500 people worldwide, it is still considered a rare disease. Like patients with many rare diseases, for those with CMT the health care experience can be very frustrating. Many physicians and health care providers have heard of the disease but not the nuances of how to treat CMT or even how to officially diagnose CMT. Research within the field was limited and isolated, without collaboration, causing frustration among scientists and physicians.  Like most rare diseases, CMT is under diagnosed, often mistreated by clinicians and, in the past, has had little collaborative research.

However, the Charcot-Marie-Tooth Association (CMTA) is committed to its mission of supporting the development of new drugs to treat CMT,  improving the quality of life for those with CMT and, ultimately, finding a cure for CMT. The CMTA serves the people who have CMT, the people who love and support them, and the clinicians who treat them. Our greatest successes have been in accomplishing our twofold goals of supporting, encouraging and funding CMT research and providing information and education to our members through conferences, newsletters, publications and support groups. Our vision is a world without CMT.

The CMTA is the leading financial sponsor of research within the CMT community, and is the only CMT-specific patient advocacy organization in North America strategically aligned with the National Institutes of Health Rare Disease Clinical Research Network. In 2008, the CMTA launched the STAR initiative (Strategy to Accelerate Research) to maximize breakthroughs in genetics and dramatically speed up the pace of CMT research.

Through the exposure and networking opportunities afforded at last year’s Orphan Disease Forum held during the 2012 BIO International Convention, the CMTA has forged relationships with major research institutes, industry leaders, including large pharmaceutical companies and small biotech firms, and key opinion leaders to help develop the pathway to drug delivery. These relationships catapulted the 2013 launch of Pathways, a campaign to raise $25 million to deliver the first treatment for CMT, with key strategic partners and the first clear strategy for drug delivery. Watch our 2012 Buzz Center interview:

Thanks to these types of collaborations, the past few years have marked incredible advances in CMT research and knowledge. From an organization of only a few hundred persons, the CMTA has grown to serve over 25,000 persons and to be respected throughout the medical world and the global patient community.

The 2013 Orphan Disease Forum will take place Tuesday, April 23 with welcoming remarks from Rogerio Vivaldi, senior vice president and head of rare diseases business unit, Genzyme, a Sanofi Company at 8:45 a.m. and the program sessions will begin at 9:00 a.m. and wrap at 5:00 p.m. To learn more about the sessions and speakers, please visit here.

As the Director of Development for the CMTA, Susan Ruediger is responsible for the organization's strategic partnerships and fundraising activities. Susan was diagnosed with CMT when she was 18 months old and can trace CMT back 6 generations in her mother’s family.