Chapter 13 – Gene Therapy in Monogenic Congenital Myopathies

Current treatment options for patients with monogenic congenital myopathies ameliorate the symptoms of the disorder without resolving the underlying cause. However, therapies are being developed where the mutated or deficient gene target is replaced. Thousands of clinical trials are underway relating to gene therapy, with around 9% focused on monogenic diseases such as Duchenne muscular dystrophy and limb girdle muscular dystrophy. Preclinical findings in animal models have also been promising, as illustrated by studies of a potential treatment for X-linked myotubular myopathy in canine and murine models. We will therefore discuss the prospective applications and approaches of gene replacement therapy, using these disorders as examples.