The Joshua Frase Foundation has released a new eighteen-minute documentary about the family’s fight for more research into gene therapies for myotubular myopathy, the rare condition that Joshua Frase was born with. You can watch the documentary at the Joshua Frase Foundation’s website here.
About Myotubular Myopathy
Myotubular myopathy (MTM), also known as centronuclear myopathy (CNM), is an extremely rare disease. It causes muscle weakness, reduced muscle tone, and many children born with the disease do not live past early childhood. Over time, people with this condition can find that activities such as sitting, standing, breathing, and eating become increasingly difficult.
People with MTM are born with a genetic alteration to the MTM1 gene. Usually, the mother passes this gene on, but in some cases the alteration occurs in the womb.
About the Joshua Frase Foundation
The NFL player and Paul Frase and Alison, his wife, started the Joshua Frase Foundation in 1996, one year after their son Joshua was born.
They set up the foundation to use Alison’s determination, and Paul Frase’s position as a well-known NFL player, to promote cutting-edge research into MTM to find a treatment for the condition and to raise awareness and support families that are affected by it.
In the short documentary, the Frase family talk about Joshua and his sense of humour. They also describe how their experiences with MTM led them to work to support research into treatments for the condition. After seeing a video in which a mouse that couldn’t crawl was given gene replacement therapy that allowed it to run, Alison says that she thought, “Could this be a treatment for my son?”
Before a therapy could be trialled on humans it first needed to be tested in a large animal model, something that Alison was told was “next to impossible to find.” However, after searching, a vet in Canada finally finds a female dog called Nibs who carried the MTM1 alteration – the only female dog known to carry it in the world at that time. In the documentary Alison talks about the effect of finding Nibs on the research plans, saying, “She was the hope of our future.”
The documentary says that it is a ‘love letter[s] to lab animal heroes’, and it shows how Nibs, the mother of many lab animals, was crucial to furthering research into the MTM1 gene therapy. The documentary shows how animal carers, medical researchers, and affected families worked together to finally produce a gene therapy for MTM that could be used on humans.
On the 19th September 2017, the first patient with MTM was treated with a gene therapy. Researchers are now working on carrying out more research and trials, and so far the results have been encouraging.