Celebrating a journey of family, hope, scientists and philanthropy: Triumph

Gala - Alison FraseLast month we left off the story of Joshua Frase, his sister Isabella, and their parents Paul and Alison with their determination to find a treatment for a faulty MTM1 gene, which results in the fatal and physically devastating neuromuscular disease, Myotubular Myopathy (MTM).

Just before Joshua’s first birthday, his parents launched The Joshua Frase Foundation to fund research with the hope of a cure.  There is none more devoted than a child’s parents to raise funds, advocate for research and persistently seek treatment and cures. With the help of Paul’s status as a former NFL defensive lineman (Jets 1988-1994, Jaguars 1995-1996, Packers 1997, Ravens 1998), and the family’s tenacity, the Foundation supports basic and preclinical gene therapy research for MTM.

Alison was inspired when she saw a video of a crippled mouse, soon restored to full mobility following gene therapy.  It was her “aha moment” to find a cure for Joshua.  The research process is often long and complex, but the Frases had a short timeline and high expectations to identify a starting point to move rapidly to a cure.  Myotubular Myopathy is a good candidate for gene therapy where a functional copy of the gene replaces the faulty one and is delivered to each cell in the body using a viral vector.

Through the counsel of researchers, she started searching for a large animal model by calling veterinarians throughout the US and Canada until—miraculously– they identified a female chocolate Labrador retriever who was a carrier of the MTM1 mutation.  This pup, Nibs, became part of the Frase family and the start of a colony of research animal heroes for preclinical research toward a gene therapy cure.  Dr. Martin Childers at the University of Washington leads this research; we honor him at our 2018 Gala.  The dogs bred for this research are born with the MTM1 mutation and untreated would live only about 18 weeks; with gene replacement, they are still alive after 5 years.

Joshua passed away on Christmas Eve at the age of fifteen.  To quote his dad, Joshua’s “story is far from over.”  Thanks to the Frases, their countless supporters, the lab animal heroes, the animal care and research teams, Dr. Martin Childers and his team….the hopeful cure for this disease has entered a phase I/II clinical trial.  The study drug is an AAV8 vector containing a functional copy of the human MTM1 (hMTM1) gene to replace the dysfunctional copy in people with MTM.  Enrollment began August 2017, about 10 years after Joshua’s death and 21 years after the Foundation began, to treat four boys under the age of five with MTM.

For their journey, we are honoring Paul and Alison Frase for their courage, persistence, advocacy and fundraising on behalf of their beautiful son and others affected by Myotubular Myopathy. We are also honoring Dr. Childers for his passionate, compassionate and brilliant research to understand and treat MTM.

 

In his blog as a young teenager, Joshua published intimate thoughts about his personal mission in life.  He wrote, “My ultimate goal is to have a career as a research scientist. I want to specialize in muscle gene therapy so that I will be able to find a cure for Myotubular Myopathy.” He also wrote of his goals to “gain confidence in speaking before a group of people” and to “continue to grow spiritually.”  These are remarkable goals for any person, let alone someone so young and with unusual health challenges.

Help carry on Joshua’s personal mission to cure Myotubuluar Myopathy.  By attending the NWABR Gala you celebrate Joshua, his family, Dr. Childers, and the lab animal heroes who have brought his mission into reach.

 

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