The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) awarded a $119,000 grant to Kleopas Kleopa, MD, PhD, professor at the Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, Nicosia. The two-year award will be used to investigate whether gene therapy treatment after the onset of Charcot-Marie-Tooth (CMT) neuropathy X type 1 (X1) leads to functional improvements in patients. CMTX1, which is the second most common form of CMT disease, is characterized by moderate-to-severe motor and sensory neuropathy in affected males, and usually mild-to-no symptoms in carrier females.
Kleopa’s team had previously developed a gene therapy for the disease. The team demonstrated that a single injection of the gene that is mutated in CMTX1 led to the production of normal protein in nerves, as well as improvements in patients’ peripheral nerve health and motor performance. The researchers will now 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.
CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affects peripheral nerves. CMT is one of the most common inherited neurological disorders, affecting approximately one in 2,500 people in the United States. While there is no cure, orthotic and orthopedic devices, physical and occupational therapy, and orthopedic surgery can help patients live with the symptoms.
