$119K Grant Awarded to Gene Therapy Project for Charcot-Marie-Tooth Disease

Researchers have received $119,999 in funding to test the effectiveness of a gene therapy approach in Charcot-Marie-Tooth neuropathy X type 1 (CMTX1), the second most common form of Charcot-Marie-Tooth disease (CMT).

The award was granted by the Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) to Kleopas Kleopa, MD, professor at the Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, in Nicosia, Cyprus.

MDA and the CMTA have collaborated since 2016 to advance CMT research, public awareness and clinical care. The organizations aim to find treatments for children and adults whose weakening physical strength and loss of mobility make the most basic daily activities extraordinarily challenging.

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

The two-year award will be used by Kleopa’s team to investigate whether gene therapy treatment after the onset of CMT1X, leads to functional improvements in patients. CMT1X is characterized by a moderate-to-severe motor and sensory neuropathy in affected males, and usually mild-to-no symptoms in carrier females.

Also with MDA’s support, Kleopa’s team previously had developed a gene therapy for the disease. The team demonstrated that a single injection of the gene that is mutated in CMT1X, led to the production of normal protein in nerves, as well as improvements in patients’ peripheral nerve health and motor performance.

The researchers now will test if repeated injections of the therapy result in increased protein levels, and whether the gene therapy delivered at later stages of the disease results in improvements, as do the ones seen in early stages.

“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 MDA,” Gilles Bouchard, CMTA CEO, said.

CMT, also known as hereditary motor and sensory neuropathy (HMSN), or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies. CMT is one of the most common inherited neurological disorders, affecting approximately one in 2,500 people in the U.S.

While there is no cure for CMT, orthopedic surgery, physical therapy, occupational therapy, braces and other orthopedic devices can help patients live with the symptoms.

This grant is one of 29 new MDA grants totaling more than $7 million. It also is one of the 16 CMT grants that MDA is currently funding, totaling more than $4.3 million just for this disease.