CMT4J currently has no treatment and no cure. Through our close work with expert scientists and clinicians CureCMT4J has identified a pathway towards a cure using cutting-edge gene therapy. This treatment is now being tested at The Jackson Laboratory using specially designed mouse models. CureCMT4J is raising funds toward advancing this treatment for clinical trials in humans.
While CureCMT4J works toward a treatment, the following information is important to discuss with your health care providers:
STANDARDS OF CARE:
Neurotoxic Medications – It is widely accepted in the understanding of Charcot Marie Tooth diseases that certain medications can be harmful to the nervous system, triggering or exacerbating CMT-related neuropathy. Both the CMTA and HNF have a list of these potentially neurotoxic medications. Discuss any new medications with your health care provider first.
Scoliosis – people with CMT4J tend to have a higher risk of developing scoliosis, an abnormal curvature of the spine. Specialists recommend screening and treatment of scoliosis.
Respiratory Compromise – CMT4J, and many other forms of CMT, are known to decrease/compromise respiratory function as the disease progresses. For this reason, pulmonary function tests and chest x-rays may be recommended for a person with CMT4J.
Bracing and Orthotics – many people with CMT4J and other forms of CMT require special bracing on their feet, ankles, legs, or hands. Your Neurologist can work closely with Orthopedic and Orthotic specialists to provide the best support for you.
Anesthesia and Surgery – there is continued discussion over concerns of certain types of anesthesia used in people with CMT. Discuss any plans for surgery or dental work requiring anesthesia with your Neurologist.
NIH: 2014 update for abolishing special review for gene therapy trials:
Relevant paper on parent-driven research models:
Drug development roadmap, from Global Genes:
Overview of Charcot Marie Tooth Diseases