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MDA and CMTA fund grant to study gene therapy in charcot-marie-tooth disease

March 17, 2017

CHICAGO, March 17, 2017 - The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) today announced a research grant totaling $119,999 to Kleopas Kleopa, M.D., for a study on the effectiveness of a gene therapy approach in the second most common form of Charcot-Marie-Tooth disease (CMT). The grant is one of 29 new MDA grants totaling more than $7 million.

MDA and the CMTA are co-funding the grant under a partnership formed in 2016 that aims to advance CMT research, therapy development and clinical care, and increase understanding about the disease by improving education for kids and adults affected by CMT, medical professionals and the public.

"MDA is pleased to collaborate with the CMTA to fund this exciting research," MDA Scientific Program Officer Amanda Haidet-Phillips said. "Working together allows us to have a greater impact as we pursue our common goals to help individuals and families with CMT."

Kleopa is a professor and senior consulting neurologist at the Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, in Nicosia, Cyprus. The two-year grant, which became effective Feb. 1, 2017, will fund research on whether gene therapy treatment after disease onset leads to functional improvements in CMT1X.

With previous MDA support, Kleopa and his colleagues pioneered a gene therapy approach to treat CMT1X, showing that a single injection of the gene that is mutated in the disease was associated with production of normal protein in nerves and improvement of peripheral nerve health and motor performance.

Kleopa's new work will advance and expand on this approach as his team examines whether repeated injections lead to increased protein levels, and whether treatment at later stages of the disease leads to improvements similar to those seen for treatment in the early stages.

CMTA CEO Gilles Bouchard said, "Partnerships are at the core of the CMTA's STAR (Strategy to Accelerate Research) approach to finding treatments for various types of CMT, so we are very pleased to announce today the first research project jointly funded with the MDA."

CMT is one of the neuromuscular diseases MDA fights as an umbrella organization with a big-picture perspective on finding treatments and cures for kids and adults whose weakening physical strength and loss of mobility make the most basic daily activities extraordinarily challenging.

CMT is one of the most common inherited neurological disorders, affecting approximately one in 2,500 people in the United States. It comprises a group of disorders caused by mutations in genes that affect the normal function of peripheral nerves--the long nerves to the feet and hands. Degeneration of motor nerves results in muscle weakness and atrophy in the arms, legs, hands or feet, and the degeneration of sensory nerves results in a reduced ability to feel heat, cold and pain. Onset of symptoms most often occurs in adolescence or early adulthood, though the disease can also present in later years. There are many forms of CMT, and the severity of symptoms varies widely among individuals. There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices and orthopedic surgery can help people cope with the disabling symptoms of the disease.
MDA has funded more than $36 million in CMT research since 1950. Including this most recent award, it is currently is funding 16 CMT grants of more than $4.3 million. The CMTA funds and promotes targeted activities in its STAR research network with the aim of advancing therapies via alliance partnerships, with 40 current research projects and a funding total of just over $5 million over the last three years.

The MDA and CMTA Boards of Directors approved the grant after careful analysis and deliberation by the MDA's Research Advisory Committee and the CMTA's STAR Advisory Board, peer review processes overseen by leading clinicians and scientists in volunteer roles. This year, MDA is funding more than 150 research projects worldwide.

About MDA

MDA is leading the fight to free individuals--and the families who love them--from the harm of muscular dystrophy, ALS and related muscle-debilitating diseases that take away physical strength, independence and life. We use our collective strength to help kids and adults live longer and grow stronger by finding research breakthroughs across diseases, caring for individuals from day one and empowering families with services and support in hometowns across America. Learn how you can fund cures, find care and champion the cause at

About CMTA

The Charcot-Marie-Tooth Association (CMTA) is a registered 501c3 dedicated to serving an international patient community that suffers from rare and disabling neuropathies of genetic origin. The CMTA directly engages its STAR scientific and clinical research network in the identification, validation and clinical development of therapies for the different Charcot-Marie-Tooth disorders. The CMTA has focused solely on promoting the education, management and treatment of patients with CMT disorders since 1983.

Charcot-Marie-Tooth Association

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