There are neuropathy diseases caused by underlying genetic disorders that have been identified, and for which a treatment is currently under development. These diseases include LHON, CMT1A, and CMT4J. For LHON (Leber’s Hereditary Optic Neuropathy, a disease that causes blindness), a phase III trial is underway for adeno-associated viral vector (AAV2) to deliver a functional copy of the ND4 gene into retinal ganglion cells.
For CMT1A (Charcot-Marie-Tooth Type 1A, a disease that can cause sensory and motor problems, as well as foot deformities), PXT3003 has been shown to reduce the overexpression of PMP22, the duplicated gene that drives CMT1A. For CMT Type 4J (another CMT disease in which the FIG4 gene is mutated, resulting in severe demyelinating neuropathy), an AAV is under development to deliver a functional copy of the FIG4 gene.
Over 100 mutated genes related to neuropathy have been identified to date and are being investigated, depending on the urgency (severity of the symptoms and the number of persons affected) and the funds available for research.
