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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 were the driving force behind this unique conference, which followed the CMT International Consortium. Steve, Kim and their families organized and structured all aspects of this event, making it a memorable occasion for all.

 

President and Chairman of the CMTA’s Board of Directors, Patrick Livney, kicked the conference off by welcoming all the attendees and presenters. He emphasized the CMTA’s commitment and dedication to finding treatments for CMT under the banner of the STAR (Strategy to Accelerate Research) initiative. Livney admitted that uncovering the right drug to treat and/or cure CMT may be a challenging process, in which missteps are to be had. But, much like Pat Livney’s golf game, where even the most precise drive may end up hooking or slicing, missing the initial target, it may take several tries, before we hole the ball. Whatever it takes, the CMTA is entirely devoted to “making par” and “in short order, finding treatments for CMT”.

 

Following Patrick Livney, Dr. Steven Scherer, member of the CMTA’s Medical Advisory Board and Professor at the University of Pennsylvania, spoke about, “Understanding the Different Types of CMT”. Dr. Scherer explained that CMT, also referred to as Hereditary Motor and Sensory Neuropathy (HMSN), is a hereditary disease of the peripheral nerves, causing dysfunction in the sensory and/or motor nerves. In CMT, either the axons or myelin of these nerves are progressively compromised, slowing down the signals from the legs and arms to the spinal cord and brain, causing muscle weakness and sensory loss. Dr Scherer’s lifetime work lies not only in studying all aspects of the disorder, but also in training future generations of neurologists and researchers in the field of CMT to ensure a better future for all those with CMT and their families.

 

The UK’s professor of clinical neurology, Dr. Mary Reilly began 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” to illustrate where the current state of CMT research lies. In other words, we have moved forward in understanding what genes cause CMT and why, but we have not yet come up with treatments for the CMT population, which is frustrating and disheartening to both physician and patient. Nevertheless, diagnosis is an important part of understanding this hereditary neuropathy, for researchers and for patients. Statistically, 67% of the people diagnosed with CMT,  92% of people have 1 of the following four genes affected: PMP22, MPZ, GJB1, and MFN2 . Even if we sequence the entire genome of an individual, we all have genetic variations making us unique and different, making diagnosis complex. So, in the near future, the CMT scientific community will have to figure out a way to discern which genetic mutations cause disease, and which do not. This is the challenge of the next ten years!

 

Next, Chairman of the CMTA’s Medical Advisory Board, Dr. Michael Shy explained that since its inception, the CMTA’s STAR initiative was created to turn scientific discoveries into treatments. The STAR program, guided by a Medical Advisory Board of world-renowned scientists, initially concentrated on CMT1A, using a High Throughput Screening (HTS) process at the NIH Chemical Genomic Center, run by Dr. Jim Inglese in Bethesda MD. With the input of the CMTA’s STAR researcher Dr. John Svaren of Wisconsin, the CMTA currently has identified  3 promising  compounds thought to reduce PMP22 levels, which are about to be tested in laboratory models, with the hopes of launching human clinical trials in the near future. Rendering the STAR initiative more inclusive and comprehensive, the CMTA plans to attack CMT Type 2 and CMT Type 1X over the next several months.

 

 

 

Following Dr. Shy, the CMTA’s CEO David Hall spoke about the success of the CMTA’s innovative STAR initiative. With approximately 7000 rare diseases in the USA, of which CMT is one, only 200 of these rare diseases have treatments and none have a cure. From the CMTA’s perspective, the system was broken, and from this broken system, STAR was born. STAR is strategic research program structured to maximize breakthroughs in genetics and dramatically speed up the pace of CMT research. The STAR program’s unique character stems from the willingness of these scientists to come together to advance CMT research as a team, sharing and communicating ideas, discoveries and research findings. The STAR program has been funded solely by the CMTA. The CMTA has partnered with the NIH and various pharmaceutical companies like GlaxoSmithKline, Pfizer and Sangamo to bring you a treatment for CMT in the very near future. For more information on the CMTA’s STAR initiative, please visit the CMTA website:www.cmtausa.org.

 

Right before lunch, Jeana Sweeney, the CMTA’s Director of Community Services spoke about ways of getting involved with the CMTA and its quest to spread awareness and raise research dollars. After handing out a few door prizes, she reminded the audience to join the CMT community through the CMTA’s new website: www.cmtausa.org and to get involved in CMT September Awareness Month activities.

 

One of the highlights of this patient and Family Conference was a segment called “Lunch with the Experts”, where participants had the opportunity of dining with well-known and knowledgeable CMT researchers, clinicians, and CMTA volunteers. This event facilitated conversation and communication with esteemed CMT experts from around the world, making for a true collaboration between CMT patients and physicians.

 

After lunch, Carly Siskin and Shawna Feely, genetic counselors from the CMT Clinic at Wayne State, in Detroit, tackled “Genetics and CMT”. In addition to educating the participants about the different inheritance patterns found in CMT, they shared the pros and cons of prenatal testing, known as PGD or Preimplantation Genetic Diagnosis. In addition, they spoke at length about GINA or the Genetic Information Discrimination Act. For more information about Gina, please go to: http://www.eeoc.gov/laws/types/genetic.cfm.

 

Lastly, Carly reminded all the participants to register with the RDCCRN or the Rare Disease Clinical Research network, a site dedicated to informing patients or parents of patients of clinical research studies. If you have CMT, joining the Inherited Neuropathies Consortium will help researchers identify and recruit individuals who are eligible for participation in future research studies.

 

In the next talk, Gita Ramdharry, physical therapist from the UK, discussed her topic “Physical Therapy, Orthotics and Activity in Adults with CMT”. Dr. Ramdharry highlighted some of the primary physical issues she sees in people with CMT: loss of balance, muscle deconditioning, decreased hand function, pain, severe fatigue and inactivity.  To improve quality of life in patients with CMT, Dr. Ramdharry believes it necessary to work with a CMT-knowledgeable physical therapist who can offer advice, ongoing assessment and self management techniques. In her clinic, Dr. Ramdharry emphasizes stretching, exercise (never to the point of exhaustion), balance techniques, orthotics/splints and muscle strengthening to increase fitness level and reduce effort expenditure in day-to-day tasks.  Her basic message is to “Get Advice, Get Active”.

 

Finally, Dr. Joshua Burns, Associate Professor from the University of Sydney. Australia, addressed the CMT pediatric population in the “Assessment and Management of Children with CMT”. Dr Burns briefly covered the CMT Pediatric Neuropathy Score, which effectively measures the impairment of CMT in children. Emphasizing the treatment aspect of CMT in children, Dr Burns has found that good shoes, orthotics, stretching and strength training makes a positive impact on kids with CMT. Dr. Burns’s unwavering dedication to searching for new therapies and compiling evidence to support novel treatments for children with CMT provided a glimmer of hope for kids and their parents.

 

Lastly Steve Weiss drew the conference to a close and thanked 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”. A heartfelt thank you to all the volunteers, especially the members of the Weiss/Hughes/Berger families, without whom this fabulous conference would never have come to fruition. 

 

 

 

 

And just to prove Karen was there too, here is a picture of Karen with CMTA Board Member, Elizabeth Ouelette and CMTA member, Vicki Pollyea, who had flown all the way from Tampa, Florida to be at the meeting:

 

 

Article written by Elizabeth Ouelette, Board Member of CMTA