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Dr. Michael Shy to lead $6.25 million NIH research program on Charcot Marie Tooth

November 28, 2009

The National Institutes of Health announced recently a second phase of the Rare Diseases Clinical Research Network totaling $117 million which includes funds for 19 research consortia.

Wayne State University received a five-year, $6.25 million research consortium grant from the National Institute of Neurological Disorders and Stroke under this program. The grant, “Inherited Neuropathies Consortium,” is an international project aimed at developing a better understanding of and new treatments for the various forms of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is one of the most common genetic nerve diseases, affecting 1 in 2,500 people, or 120,000 Americans. CMT causes progressive muscle weakness, painful foot deformities and walking difficulty. As the disease progresses, weakness and muscle atrophy occur in the hands, resulting in difficulty with fine motor skills. Symptoms vary from patient to patient, with pain ranging from mild to severe, with some patients relying on foot or leg braces or other orthopedic devices to maintain mobility. To date, no effective therapies are available for any form of CMT.

To address this issue, Dr. Michael Shy, M.D., professor of neurology in the School of Medicine, and resident of Bloomfield Hills, Mich., is leading the study which aims to provide insights into disease mechanisms, develop therapies and educate future research on inherited neuropathies such as CMT.

According to Shy, there are mutations in more than 40 different genes causing CMT in millions of patients throughout the world. “Modern genetics and cell biology make developing treatments for these disorders a realistic possibility,” said Shy. “However, many of the individual forms of CMT are rare, so to better understand the different forms of CMT and develop rational treatments for them requires national and international collaborations between neurologists and scientists.”

The project has specific goals geared toward establishing a Rare Disease Clinical Research Center (RDCRC) for the inherited neuropathies. In particular, the group will determine the natural history of the most common forms of CMT that currently lack this information.

“At Wayne State, we have pioneered the natural history studies for the two most common forms of CMT – CMT1A and CMTX,” said Shy. “Our results are used by neurologists around the world to design clinical trials for these disorders. However, for the types of CMT to be studied in this project, we do not see enough patients at WSU to perform natural history studies by ourselves, hence the critical nature of having a national and international collaboration.”

In addition, the project aims to identify ‘modifier genes’ in CMT1A, the most common inherited neuropathy. CMT1A comprises about half of all the patients with CMT and is caused by an identical genetic mutation in all patients.

In collaboration with the Human Genomic Institute at the University of Miami, the group will use 21st century gene sequencing techniques to identify these modifier genes that will help determine how severely patients will be affected. Using the same techniques, the University of Miami researchers will identify the genetic cause of CMT in families in which only a few members have been affected, something previously not possible.

The project also will study children affected by CMT. The consortium will develop a pediatric scoring system that will be used around the world to measure impairment and progression of disability in children with CMT. The collaborators also will establish a new CMT Web site to provide patients, their families and scientists around the world with the latest CMT information. In addition, the consortium will carry out an international training program for clinical and research doctors to train the next generation of researchers for CMT and other neurodegenerative diseases.

Wayne State University has one of the largest and most comprehensive CMT programs in the world. The program is translational, combining patient care and patient clinical research with animal and cellular models of CMT. Since 1996, WSU has evaluated more than 1,200 patients with CMT from more than 21 countries, five continents and 46 states in addition to Michigan, with funding coming from the National Institutes of Health, Muscular Dystrophy Association and Charcot-Marie-Tooth Association.

Along with Shy, project collaborators include Gyula Acsadi, M.D., Ph.D., associate professor of neurology at WSU and director of the Pediatric MDA Clinic and Pediatric Neurology Clinical Division Chief at Children’s Hospital of Michigan; Steve Scherer, M.D., Ph.D., William Kelly professor of neurology and vice chair for research in neurology at the University of Pennsylvania; Mary M. Reilly, M.D., director of the neuropathy clinic at the National Hospital for neurology and neurosurgery in London, England, and head of the Peripheral Neuropathy component of the MRC Centre for Neuromuscular Diseases at Newcastle University and the National Hospital for Neurology and Neurosurgery; Francesco Muntoni, M.D., professor and consultant in paediatric neurology in the Dubowitz Neuromuscular Centre at the University College of London Institute of Child Health; Stephan Zuchner, M.D., associate professor of medicine, Miami Institute of Human Genomics, University of Miami; Jeffery Vance, M.D., professor of medicine and director of the division of human genomics, University of Miami; and David Herrmann, M.D., associate professor of neurology and pathology, School of Medicine, University of Rochester.

“This international project establishes Wayne State University’s Department of Neurology as the leading inherited neuropathy program in the U.S. and around the world,” said Dr. Robert Lisak, chair of neurology in the School of Medicine. Under Dr. Shy’s leadership, this consortium will bring us much closer to the development of effective treatments for the various forms of CMT.”

Scientists Develop A New Diagnostic Approach For Carriers Of Recessive Genetic Disorders

July 5, 2006

Filed under: News You Can Use

Scientists Vivian Cheung and Warren Ewens from the University of Pennsylvania have developed a new approach for the diagnosis of medical disorders that are inherited in a recessive manner. Their method is based on identifying subtle but distinct differences in genome-wide expression profiles using microarray technology. An article describing the approach appears online this week in the journal Genome Research. [Medical News Today]

Intensive Support Programmes Benefit Parents Of Children With Rare Diseases

February 28, 2006

Filed under: News You Can Use

Intensive support programmes can help parents of children with rare diseases reduce their stress levels and improve their quality of life, according to research published in the latest Journal of Advanced Nursing.

Medication-induced exacerbation of neuropathy in Charcot Marie Tooth Disease

January 3, 2006

Filed under: News You Can Use

Weimer LH, Podwall D.
Department of Neurology, Columbia University College of Physicians and Surgeons, The Neurological Institute, 710 West 168th Street, Unit 55, New York, NY 10032, USA.
Toxin or medication-induced worsening of preexisting peripheral neuropathy is a generally accepted but not well-studied phenomenon in humans. Drug-induced exacerbation of Charcot Marie Tooth disease (CMT) neuropathy is a common concern; a list of potential drugs to avoid is maintained by the CMT Association but with limited direct evidence or advice on relative risk. An extensive literature search for reported cases of drug effects in CMT patients found the vast majority concerned excessive vincristine toxicity in patients with undiagnosed demyelinating forms of CMT, many after 1 or 2 doses. The CMT North American database was also queried for all drug-related effects. All but one drug cited as worsening neuropathy was present on a compiled inclusive list. These results and other available evidence were used to develop a revised risk stratified list for CMT patients and clinicians to consult prior to discussing risk to benefit ratios and making treatment decisions.

Alternatives to endotracheal intubation for patients with neuromuscular diseases

November 14, 2005

Filed under: News You Can Use

Servera E, Sancho J, Zafra MJ, Catala A, Vergara P, Marin J: Alternatives to endotracheal intubation for patients with neuromuscular diseases. Am J Phys Med Rehabil 2005;84:851-857.
OBJECTIVE:: To evaluate the usefulness of continuous noninvasive mechanical ventilation and mechanical coughing aids to avoid endotracheal intubation and tracheostomy during episodes of acute respiratory failure in patients with neuromuscular disease. DESIGN:: We conducted a prospective cohort study at the respiratory medicine ward of a university hospital to study the success rate of the use of continuous noninvasive mechanical ventilation and manually and mechanically (CoughAssist) assisted coughing to avert endotracheal intubation in 24 consecutive episodes of acute respiratory failure for 17 patients with neuromuscular disease. The noninvasive mechanical ventilation and coughing aids were used to reverse decreases in oxyhemoglobin saturation and relieve respiratory distress that occurred despite oxygen therapy and appropriate medication. Noninvasive mechanical ventilation was delivered by volume ventilators (Breas PV 501) alternating nasal/oronasal and oral interfaces.
RESULTS:: Noninvasive management was successful in averting death and endotracheal intubation in 79.2% of the acute episodes. There were no significant differences in respiratory function between the successfully treated and unsuccessfully treated groups before the current episode. Bulbar dysfunction was the independent risk factor for failure of noninvasive treatment (P < 0.05; odds ratio, 35.99%; 95% confidence interval, 1.71-757.68). CONCLUSIONS:: Intubation can be avoided for some patients with neuromuscular disease in acute respiratory failure by some combination of noninvasive mechanical ventilation and mechanically assisted coughing. Severe bulbar involvement can limit the effectiveness of noninvasive management. [Read more]

Site helps uninsured find health coverage

May 25, 2005

Filed under: News You Can Use

Condensed from The Arizona Republic:
The National Association of Health Underwriters has rolled out an Internet site that provides state-by-state information on coverage options for many situations – including job changers, high-risk people unable to obtain traditional insurance and the poor.
The new site, www.nahu.org/consumer/healthcare, is helpful to a computer savvy consumer who understands insurance terms. That’s especially the case if it is used in conjunction with other Internet sites that provide price quotes on individual policies and the consumer health insurance information.
Every three years an average of one in four adults loses employer-based health coverage – at least temporarily – because of a job change, an employer’s bankruptcy or another life event such as early retirement or a divorce, according to Georgetown University’s Health Policy Institute.
For people with pre-existing health problems, the new Web site lists the 32 states that have high-risk pools…. and a state-by-state list of health programs for the poor such as Medicaid and the federally subsidized State Children’s Health Insurance Program.

Revised list of contraindicated drugs

March 19, 2005

Filed under: News You Can Use

The Charcot-Marie-Tooth Association has released a revised list of drugs contraindicated for people with CMT. It is available as a PDF for printing, and will shortly be made available on this site’s Contraindicated Drugs page.
Though this list was researched and prepared for people with CMT in general and not the Dejerine-Sottas subtype in particular, the drugs on this list are there because they can cause additional damage to the peripheral nerves. Be sure that your doctor includes this list in your chart.

New Patient Magazine from American Academy of Neurology to Launch in April

March 2, 2005

Filed under: News You Can Use

Why would the leading international professional association of neurologists get into the business of publishing a magazine ­ Neurology Now ­ for patients and their caregivers?
Patients are overwhelmed and confused by the barrage of inaccurate information from unreliable sources. Neurology patients and their families are also often overwhelmed ­ and their physicians hard-pressed ­ to put the avalanche of new information in proper perspective.
For these and other reasons, the American Academy of Neurology (AAN) is launching Neurology Now in April. The premier issue will be supported by a special promotional launch during the AAN’s 57th Annual Meeting, held April 9 to 16 in Miami Beach. The magazine will be available to patients in the waiting rooms of neurologists across the United States and also by subscription for home delivery.
In focus groups sponsored by the AAN, neurologists said they needed more time and effort spent on patient education and public awareness. Neurology Now was developed in response to this need, and it will report on the latest advances in research and treatment in easy-to-read language.
“Readers can expect a health magazine that has integrity, accuracy, and balance,” said Robin L. Brey, MD, the editor-in-chief of the magazine. “Neurology Now will also foster greater energy for advocacy efforts on behalf of neurology patients.”
The premier issue will feature a cover story about actress Teri Garr who has been living with MS for several years. Each quarterly issue will highlight the latest advances in neurology research and treatment. Articles will provide tips for living and coping with disorders including Alzheimer’s disease, epilepsy, migraine, multiple sclerosis, neuropathy, Parkinson’s disease, and stroke, among other conditions.
“Family and friends are impacted significantly when someone they love has a neurological disorder, and Neurology Now will address these effects in each issue,” said Dr. Brey.
For more information about Neurology Now, visit neurologynow.com. In addition to Neurology Now, the AAN offers a book series, Patient Pages in the scientific journal Neurology, brochures, and thebrainmatters.org for patients and caregivers.
Neurology Now is published in cooperation with Lippincott Williams & Wilkins, which also publishes the leading twice-monthly scientific journal Neurology and a monthly newspaper for AAN members, Neurology Today.