Michael E. Shy, MD, Director, Division of Neuromuscular Medicine, Neurology at the University of Iowa Health Care, discusses Natural History, Biomarkers, and Gene Identification in reference to the Inherited Neuropathy Consortium (INC) during the Rare Disease Day at the National Institutes of Health (NIH) 2019 event on Thursday, February 28, 2019.
INC is focused on finding ways to improve our understanding of the rare neuromuscular disease, Charcot-Marie-Tooth (CMT) syndrome. The group is an international collaboration that includes the CMT Research Foundation, Muscular Dystrophy Association(MDA), CMTA, Hereditary Neuropathy Association, CMT-UK, and Fondazione Telethon. These groups are working together to coordinate their natural history studies to help find biomarkers and genetic information that can be used in clinical research.
CMT is a hereditary sensory and motor neuropathy that usually begins in a loss of proper function of a person’s feet and/or legs. As the disease progresses, other peripheral nerves can be affected leading to loss of function in hands and arms. Difficulties in talking, swallowing, and breathing may also occur. Many patients with CMT will require assistance walking (leg braces, wheelchairs) but disease severity and disease progression varies greatly among this population. Due to the variability, there is a great need to have a better understanding of the natural history of this disease as well as determine what genetic factors may be responsible for the large variance. There is also no treatment for this condition, so biomarkers are needed to follow this progressive condition. To that end, that is where INC can play a significant role as Dr. Shy explains in the video above.
INC is part of the NIH Rare Diseases Clinical Research Network. To learn more about this consortium, visit www.rarediseasesnetwork.org/cms/inc