Early human clinical trials treating myotubular myopathy are showing great promise, and have even exceeded expectations. This heartbreaking disease causes muscle weakness, difficulty breathing and eating, and abnormal bone development. Its victims, almost exclusively male, rarely live past early childhood.
Over the last two years, we had the privilege of seeing presentations by Drs. David Mack and Casey Childers, who had success in combating this disease in dogs with gene therapy (work made possible in large part by the efforts Alison Rockett Frase). The results were dramatic, and we all hoped for similar results in the human children who are affected, too. We are so incredibly proud of their work, and optimistic for future success!