• Country: TAIWAN
  • Official Title: 主任
  • Department: 高雄醫學大學附設中和紀念醫院小兒腦波室及分子生物檢查室

Speech Title

Update in Gene Therapy for Neuromuscular Diseases

In the last decade, a number of therapeutic approaches for neuromuscular diseases (NMDs) has been in great progress, especially DNA- and mRNA-targeting therapy. Some of them are already on the market and have been used in real world extensively, particularly the drugs for SMA and DMD. For SMA, the mRNA-targeting therapy to increase full-length SMN protein has shown its fantastic effect in ameliorating the clinical phenotype, and gene therapy with either AAV-mediated or CRISPR/Cpf1-edited has also disclosed a promising result especially when the patients were treated early. For DMD, several approaches have focused on restoring dystrophin production by reading through for nonsense mutation, exon skipping for out-frame mutation, or micro-dystrophin gene replacement. These efforts have also contributed to the launch of the first gene-therapy drug. However, there are still various issues to be explored and resolved, including vector capacity, transfection efficiency, immune reaction, and risk of oncogenesis etc. Herein, I would review and update current state of gene therapy for NMDs, especially SMA and DMD.