According to 4 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) or axonal (CMT 2D) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement.
- American researchers have built a gene therapy product incorporating the FIG4 gene (associated with CMT 4J) into an AAV9 vector.
- Dr Kleopa’s team at the Cyprus Institute of Neurology and Genetics has improved its gene therapy product already evaluated in CMT X1 mouse model using an AAV9 vector, associated with the Cx32 gene, which is lacking in this disease.
- Researchers from Dr. Jerry Mendell’s team have developed another gene therapy product combining an AAV1 vector with the neurotrophin 3 gene, a protein that favours the survival and differentiation of Schwann cells and protects the integrity of the neuromuscular junction. The product was evaluated in mice with CMT X1 and CMT 2D.
These three gene therapy products were injected either by intrathecal route (for the first two), or by intramuscular route (for the third one) into mouse models, before or after they had developed the first signs of CMT.
All three teams observed a histopathological, neurophysiological and motor improvement in the treated mice.
