New Research, Supported by MDA and the CMT Association, Examines Gene Therapy in CMT

Kleopas Kleopa, M.D.

When Colin Batty takes his mark at the Boston Marathon next month, he’ll be running toward real progress for his 40-plus family members who live with Charcot-Marie-Tooth disease (CMT). The funds he is raising as a member of MDA’s Team Momentum help make grants like the ones we announced earlier this month possible.

Colin’s miles will directly support researchers like Kleopas Kleopa, professor and senior consulting neurologist at the Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, in Nicosia, Cyprus, who is investigating a gene therapy approach in CMT1X, the second most common form of CMT.

Co-funded with the Charcot-Marie-Tooth Association, the grant is the first 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.

With previous MDA support, Kleopa and colleagues pioneered a gene therapy approach to treat CMT1X, showing that a single lumbar 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 can lead to increased protein levels and tests whether treatment at later stages of the disease can lead to improvement similar to that seen for treatment in the early stages.

The new study illustrates MDA’s big-picture approach to neuromuscular disease research, in which breakthroughs in one disease area are expected to inform advances in others.

“We hope that this study will facilitate further investigation into the potential of gene therapy for inherited neuropathies and other neuromuscular diseases,” Kleopa said.

The new grant was approved by MDA’s Board of Directors following careful deliberations and analysis by MDA’s Research Advisory Committee, through which leading clinicians and scientists in volunteer roles oversee the peer-review process. This year, MDA is funding 150 research projects around the world.

Research like Kleopa’s wouldn’t be possible without the support of MDA families and event participants, as well as partners and supporters who participate in, organize and donate to community fundraising programs such as Muscle Walk, Fill the Boot and MDA Team Momentum.

MDA has funded more than $36 million in CMT research since 1950 and, including this most recent award, currently is funding 16 CMT grants with a total funding commitment of more than $4.3 million.