Gene therapy and genetic therapies are direct treatments for the underlying genetic cause of a disease. Various methods are in development in academic and commercial centres worldwide involving intervention at a molecular level to modify or replace the defective gene and restore its function. Most of these are at an early stage in preclinical development, but some have progressed to the clinic. Antisense oligonucleotides have recently been approved for the treatment of SMA and amyloid neuropathies. Gene replacement using viral vectors is in clinical development for several neuromuscular diseases including DMD, SMA and myotubular myopathy.
Our current research focuses on gene therapy using viral vectors in animal models of DMD such as the mdx mouse and the DMD pig. We have developed small dystrophin genes to fit into AAV vectors and tested their functionality.