Innovator Spotlight

Q: What prompted the creation of the association?
The Charcot-Marie-Tooth Association (CMTA) was started in 1983 by Howard Shapiro, a patient who worked in the research laboratories of the University of Pennsylvania. With the help of his family and a few friends, he hoped to create interest in CMT within the medical community while also providing support to patients and families dealing with the little-known problem.

The mailing list at that time was made up of doctors and scientists that Howard knew, as well as the extended list of friends of his family. The group published a newsletter beginning in 1987, but remained very small with a very limited budget.

That same year, Howard worked with Dr. Robert Lovelace of Columbia University to organize the first scientific consortium held at Arden House. Following this significant conference, research and journal articles on CMT increased dramatically.

After Howard left the organization to return full time to his research, a Board of Directors took over and continued the direction that Howard had begun of combining patient services with the funding of research projects. That continues to be the focus of the CMTA to this day as demonstrated by the mission statement: to generate the resources to find a cure, to create awareness, and to improve the quality of life for those affected by CMT. The vision of the CMTA is "a world without CMT."

Q: What were the challenges in CMT research that you felt the association could help address?
Research in the early years was done by interested researchers in a given medical college setting. The topic for the research was set by the researcher himself, often in a fragmented manner, with no collaboration with other CMT researchers. The CMTA reviewed the individual projects and determined which projects to fund. After years of awarding grants to various scientists, none of whom ever collaborated, it became apparent that research money wasn't producing significant results.

Q: Can you tell us a bit about CMTA's Strategy to Accelerate Research (STAR) and how it helps overcome the barriers you've identified?
In 2008, the CMTA launched STAR as a strategic research program to maximize breakthroughs in genetics and dramatically speed up the pace of CMT research. The goals of STAR are ambitious: to introduce effective therapies for the most common type of CMT (1A) and to reverse symptoms of CMT.

The opportunities associated with STAR stem from the fact that the causes of CMT have been pinpointed, leading to the identification of at least 51 specific gene defects. More importantly, the fact that these genetic mutations can be replicated in laboratory models and grown as tissue cultures opens an extraordinary window of opportunity to develop treatments and cures for CMT in the immediate and foreseeable future.

Working with the preeminent thought leaders and institutions within the inherited neuropathy community, the CMTA is at the forefront of the advancement of CMT research, creation of clinical standards of care, and the development of therapies to treat and cure CMT. STAR's unique character stems from the willingness of the scientists to come together to advance CMT research as a team, sharing and communicating ideas, discoveries and research findings. Through these strategic relationships and programs, the CMTA is not only able to stimulate the advancement of collaborative CMT research and clinical care, but also provide essential information for outreach and education to the CMT patient and professional health care community.

STAR has been funded solely by the CMTA and is managed in conjunction with a dedicated Scientific Advisory Board comprised of an international body of the world's most accomplished medical pioneers.

Q: What do you consider the association's greatest accomplishments to date?
The greatest accomplishments of the CMTA are the services offered to our patients and our commitment to finding treatments for CMT.

Included in our patient services are comprehensive published materials, both in print and online to keep our readers apprised of the latest developments in research, clinical trials, and therapeutic interventions. The Ask the Experts column offers answers to common questions provided by our Medical Advisory Board. Patients turn to the CMTA's network of 41 support and action groups in North America. Patient/family conferences bring CMT experts together to speak to patients and their families on important topics including definitions of the various types of CMT, the current state of research, and beneficial surgical and therapeutic interventions. Overall, the CMTA provides access to the world's best CMT specialists to provide detailed information about CMT to patients worldwide.

The CMTA is especially proud of our research. We have funded work on the genetic causes of CMT (thought to be more than 51 different genetic flaws) and the possible drug treatments for some of the various types of CMT. The CMTA's STAR Pathways is a $25 million campaign created to identify compounds to stop the progression of CMT and to bring those compounds to market for patient use. The CMTA's STAR Pathways strategy has been validated by key industry leaders and government agencies.

The services we provide for patients living with CMT and the hope we can offer regarding possible treatments to keep children from becoming disabled by the disease are surely our greatest accomplishments.

Q: What are your top research goals for 2013, and what will it take to reach those goals?
The CMTA has reached significant milestones including the development of a cellular assay and high-throughput screening of more than 350,000 pharmaceutical candidates, with efficacy proven in several candidate compounds. Additionally, an animal model has been built, and the preclinical pharmacology (proof of principle in animals) is underway. With the help of a drug delivery expert, the CMTA has mapped the pathway toward the first treatment.

The top research goals for the CMTA's STAR initiative are to follow CMT 1A to the first pharmaceutical treatment while developing a pipeline of research for other disease types. The CMTA's STAR Pathways will produce the completion of Phase II clinical trials of two pharmaceutical therapies in one specific disease (thought to be 1A at this point), and the pre-clinical results for two other disease types.

The CMTA's STAR Pathways requires $25 million dedicated to research. The CMTA is aggressively seeking relevant funding sources and has garnered interest in private citizens, large pharmaceutical companies, and public sources.