According to a publication from Charcot-Marie-Tooth News, the first patient has been enrolled in the first ever natural history study of type 4J Charcot-Marie-Tooth disease.
Study collaborators — biotechnology company Neurogene and the University of Texas Southwestern Medical Center — hope to use the research as a springboard for future inquiry into gene therapies for the family of conditions.
About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, is a group of genetically-inherited conditions that affect the peripheral nerves — the web of nervous tissue that extends from the brain and spinal cord (themselves comprising the arguably more famous central nervous system) throughout the rest of the body.
CMT is a highly diverse collection of conditions — it has many forms that have even more subforms in turn. Cases are differentiated by their effects on nerve cells and inheritance patterns. Type 4 (CMT4) in particular is distinguished chiefly by its inheritance pattern, and can affect both axons and the myelin that sheathes them.
When CMT damages myelin, it disrupts the nervous system’s ability to effectively transmit information throughout the body. CMT4 in particular is frequently characterized by muscle weakness and, slightly less often, changes in sensory perception may occur.
CMT4J, the subtype of CMT4 examined in the Neurogene/UT Southwestern Medical Center study, is caused by mutations to a gene called FIG4. Normally, FIG4 is responsible for coding the production of a protein called FIG4 (sometimes referenced as SAC3). FIG4 is an enzyme that plays a significant role in cell biology.
Scientists are still researching exactly how mutations to FIG4 lead to the symptoms that characterize CMT4J, such as significant muscle weakness of the limbs, motor dysfunction, and “variably progressive” memory loss.
Research May Help Pave the Way for Future Treatment
Currently, all treatment for CMT4J revolves around the management of the worst symptoms. It is especially difficult to formulate a medication for a condition whose mechanism of inheritance is only partially understood.
The Neurogene-UT Southwestern Medical Center study is seeking to recruit up to 20 CMT4J patients at the Dallas-located hospital. Patients will be examined regularly for around five years, undergoing a number of exams and health assessments in that time. Researchers hope the study will provide new insights into the nature of CMT4J and how it runs its course.
“This is the world’s first prospectively designed natural history study specifically for CMT4J,” said Dr. Diane Castro, the project’s lead researcher. Data collected in this study may one day be used to create a gene therapy for the condition — though that could be years and years away.
What do you think of this exciting, first-of-its-kind study? Does it surprise you how many conditions exist that physicians and scientists know so little about? Share your thoughts with Patient Worthy!
