CMT4J, or Charcot Marie Tooth, Type 4J, is an ultra-rare, severe, progressive neuropathy caused by a mutation on the FIG4 gene. CMT4J can cause profound, accelerating limb weakness and muscle atrophy, making it very difficult for patients to walk or even lift up their arms. Some patients experience difficulty breathing due to phrenic nerve injury in the diaphragm. CMT4J is often compared to a slower form of ALS (Lou Gehrig’s Disease).
At present there is no treatment or cure.
However, the gene involved in the CMT4J mutation is considered to be an ideal gene for use in gene therapy due to its size and makeup. Because CMT4J is considered to be a peripheral nerve disorder, it is expected that many of the nerve cells already involved would have the chance to regenerate and re-myelinate with gene therapy. In theory, gene therapy would not only halt disease progression, but would also reverse effects on damaged nerve cells.
At just ten years old, Talia Duff is known to many in her community. She is the bright light among fourth graders who love to encircle her at the lunch table or play her imaginative games at recess. She is a big reader, a budding musician, actor, tandem cyclist and sit-skier. Talia is the center of a very special family and community who help her to embrace all that life has to offer. She is also brave beyond her years, having endured countless medical procedures and interventions for most of her life.
CMT4J is progressing rapidly in Talia. In less than a year she has profound, accelerating muscle weakness, which makes it very difficult for Talia to walk or even lift up her arms. In fact, she has never walked independently. She has significant trunk/core/chest/neck weakness, at times making it difficult to even hold her head up. She is already wheelchair bound. Her phrenic nerve has also been affected, causing respiratory difficulties.
Gene therapy represents a lifesaving treatment for Talia and others affected by CMT4J, and potentially those affected by other genetic diseases as well.
The Talia Duff Foundation is generating awareness and support for the development of gene therapy to address CMT4J. By moving this research forward, other valuable discoveries and potential applications in viral vector therapies could be made possibly impacting other diseases and improving the quality of life for countless others.
We are excited to announce that Dr. Jun Li is on board as a member of our team! Dr. Li is a tenured Professor of Neurology at Vanderbilt University School of Medicine. He is sub-specialized in Neuromuscular Diseases with a special interest in Charcot-Marie-Tooth (CMT) diseases and myelin biology, including pathogenesis and therapeutic development of CMT4J. He directs the Vanderbilt CMT Clinic, which has been recognized by the CMT Association as a CMT Center of Excellence.
Are you affected by CMT4J?
If you or someone you love has CMT4J, we'd love to hear from you! Our work relies on making connections with others affected by CMT4J. Please call or email us — we're eager to connect and include you in our efforts.
The Talia Duff Foundation Inc. (Tax ID: 81-3019217) is a Massachusetts corporation. Federal tax exempt status as a public charity under Section 501(c)(3) has been approved by the U.S. Internal Revenue Service.