According to a story from medicalxpress.com, early tests of a gene therapy for X-linked myotubular myopathy are showing promising results. This could represent a major breakthrough for this disease, which in the past could lead to a death in as little as a few weeks or months after birth when severe. Current treatment options are mostly supportive.
What is myotubular myopathy?
X-linked myotubular myopathy is a genetic disorder in which the nuclei of cells in the musculature are located in an abnormal position. This leads to severe muscle weakness, leading to problems with breathing, delay in developmental milestones, and low muscle tone. Other symptoms include a high arched palate, bell-shaped torso, and long digits. The degree of muscle weakness varies considerably, with some patients having much milder symptoms. Others may be confined to a wheelchair for most of their life. X-linked myotubular myopathy has no effect on cognition or intelligence. The disorder is caused by a genetic mutation. Monitoring complications such as scoliosis and lung infections are important; some patients lack the strength to cough and clear pathogens. To learn more about X-linked myotubular myopathy, click here.
Hope of gene therapy
A collaboration of genetic experts, parents, veterinarians, and physicians helped work together in order to develop a potential gene therapy for the disease. Results appear positive so far, with some of the boys in the trial appearing to gain almost normal muscle strength and function. For example, one boy that had to use a feeding tube is now able to eat normally.
The beginning of development began with Alison and Paul Frase, whose son Joshua was born with X-linked myotubular myopathy in 1995. He was so weak that doctors expected him to die within weeks, but his parents were determined to defy the odds. They founded a research foundation, The Joshua Frase Foundation for Congenital Myopathy Research, weeks later. Only 55 cases were known in the world at that time.
The family successfully began to raise money for research, and the discovery of the myotubular myopathy mutation in a chocolate lab named Nibs, which was a natural model of the disease, allowed for testing of gene therapies on her affected progeny. Puppies with X-linked myotubular myopathy don’t survive past five months, but the gene therapy testing on the dogs began to show success, with many puppies living a normal lifespan.
The Frase’s were able to keep Joshua alive for 16 years, but he unfortunately was not able to survive long enough to participate in the clinical trials that began last fall. So far, the gene therapy appears to be very promising, but it will still take time before the treatment is approved.