Maryland’s Patient & Family Conference Attracts International Audience

At the Bolger Center in Potomac, Maryland, the Charcot-Marie-Tooth Association hosted an overwhelmingly successful Patient & Family Conference, attracting approximately 200 patients, clinicians and researchers from around the globe. The speakers and attendees, who traveled from Japan, the UK, Spain, France, Belgium, Malaysia & Australia, gave this conference an international flavor, boosting worldwide collaboration and partnership between the CMTA and international patient advocacy groups.

DC support and action group facilitators Steve Weiss and Kimberly Hughes organized and made arrangements for this conference, which followed the CMT International Consortium.

President and Chairman of the CMTA’s Board of Directors, Patrick Livney, welcomed the attendees and presenters. He emphasized the CMTA’s commitment and dedication to finding treatments for CMT through the STAR (Strategy to Accelerate Research) initiative. Although Livney admitted that finding the right drug to treat  CMT is challenging,  the CMTA is devoted to finding a treatment and eventually a cure for CMT.

Next, Dr. Steven Scherer, professor at the University of Pennsylvania and member of the CMTA’s Medical Advisory Board, discussed, “Understanding the Different Types of CMT.” Dr. Scherer explained that CMT, sometimes known as Hereditary Motor and Sensory Neuropathy (HMSN), is a hereditary disease of the peripheral nerves, which causes dysfunction in the sensory and/or motor nerves. In CMT, either the myelin sheath or the axons in the affected nerves become progressively damaged. This nerve impairment slows signals from the legs and arms to the spinal cord and brain, leading to muscle weakness and sensory loss.

Dr. Mary Reilly, professor of clinical neurology from the UK, opened her presentation, “Diagnosing and Evaluating Patients with CMT” with a quote from Charles Dickens, “It was the best of times. It was the worst of times”  illustrating the current state of CMT research. We now know of over 40 gene defects which cause CMT, but still have not found a treatment, which is frustrating to both patients and physicians. Nevertheless, diagnosis is an important part of understanding this hereditary neuropathy, for researchers and for patients. The majority of people diagnosed with CMT, have one of the following genes affected: PMP22, MPZ, GJB1, and MFN2 . Even though the entire genome has been sequenced, every one has genetic variations making individual diagnosis very complex.

Chairman of the CMTA’s Medical Advisory Board, Dr. Michael Shy followed and spoke about the CMTA’s STAR (Strategy To Accelerate Research) initiative. With a Medical Advisory Board of world-renowned scientists, the STAR program initially concentrated on CMT1A, the most common type of CMT.

Dr. Jim Inglese in Bethesda MD, utilized a High Throughput Screening (HTS) process with the NIH Chemical Genomic Center. Working with the CMTA’s STAR researcher Dr. John Svaren of Wisconsin, the CMTA identified  3 promising compounds that potentially reduce PMP22 levels. These compounds are about to be tested in laboratory models, with the hopes of launching human clinical trials in the near future. Next, the CMTA plans to attack CMT Type 2 and CMT Type 1X over the next several months.

Following Dr. Shy, David Hall, the CMTA’s CEO, spoke about the success of the CMTA’s innovative STAR initiative. Only 200 of the approximately 7000 rare diseases in the USA have treatments. However, none of these rare diseases have a cure.  STAR is a strategic research program structured to maximize breakthroughs in genetics and dramatically speed up the pace of CMT research. The STAR program’s is unique because of the willingness of these scientists to share their research and information. The STAR program has been funded solely by the CMTA, which has partnered with the NIH and pharmaceutical companies GlaxoSmithKline, Pfizer and Sangamo, hoping to find a treatment for CMT in the forseeble future. For more information on the CMTA’s STAR initiative,  visit the CMTA website:www.cmtausa.org.

Then, Jeana Sweeney, the CMTA’s Director of Community Services talked about ways to get involved with spreading awareness of CMT with the CMTA, and of raising funds for research. Jeana also suggested the audience join the CMT community through the CMTA’s new website: http://www.cmtausa.org and to get involved in CMT September Awareness Month activities.

“Lunch with the Experts”, provided an opportunity to converse with CMT knowledgeable physicians, researchers, clinicians, and CMTA volunteers.

After lunch, genetic counselors from the CMT Clinic at Wayne State in Detroit, Carly Siskin and Shawna Feely, presented “Genetics and CMT.” In addition to educating the participants about the different inheritance patterns found in CMT, they spoke about  prenatal testing, PGD or Preimplantation Genetic Diagnosis. Also, they discussed the Genetic Information Discrimination Act (Gina). For more information about Gina:  http://www.eeoc.gov/laws/types/genetic.cfm” http://www.eeoc.gov/laws/types/genetic.cfm

Carly encouraged the audience to register with the RDCCRN or the Rare Disease Clinical Research network, a site which lists clinical research studies. Joining the Inherited Neuropathies Consortium will help researchers identify and recruit individuals, who are eligible for participation in research studies.

Gita Ramdharry, a physical therapist from the UK, discussed  “Physical Therapy, Orthotics and Activity in Adults with CMT.” Dr. Ramdharry mentioned the primary physical difficulties she sees in people with CMT: loss of balance, decreased hand function, pain, severe fatigue, muscle deconditioning, and inactivity.  Dr. Ramdharry recommended  patients with CMT can improve their quality of life by working with a CMT-knowledgeable physical therapist, who can assess and advise the patient in ways to self manage their condition.  Dr. Ramdharry encourages stretching, moderate exercise, and improving balance. She also believes in orthotics, AFO’s, splints and muscle strengthening exercises.

Dr. Joshua Burns, Associate Professor from the University of Sydney, Australia, discussed “Assessment and Management of Children with CMT.” Dr Burns explained the CMT Pediatric Neuropathy Score, which effectively measures the impairment of CMT in children. Dr Burns indicates that proper shoes, orthotics, stretching and strength training positively effects children with CMT. Dr. Burns is dedicated to researching new therapies and treatments for children with CMT.

Lastly, Steve Weiss ended the conference by thanking all the presenters, the CMTA’s Support and Action group facilitators and our sponsors: Hanger Prosthetics and Orthotics, D&J Medical, Frederick Medical Supplies, Johns Hopkins Department of Neurology and Jonah Berger, author of “He Walks Like a Cowboy.” Additionally, he thanked all the volunteers, the Hughes, the Bergers and his family members, for making this conference possible.

Resources: Elizabeth Ouellette
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This entry was posted in AFO, Charcot-Marie-Tooth disease, neuromuscular disease, peripheral neuropathy, physical therapist. Bookmark the permalink.

2 Responses to Maryland’s Patient & Family Conference Attracts International Audience

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