Favorable interim results reported in stem-cell therapy trial

January 8, 2018

A therapy developed at UW shows promise in its first test in young boys who have an inherited deadly muscle disease. 

Dr. Martin Childers with one of the dogs successfully treated for the muscle-wasting disease.

Favorable interim results have been announced in a small clinical trial of a stem-cell therapy to treat patients with a rare, deadly disease called myotubular myopathy.

Drs. Martin Childers and David Mack, researchers at the University of Washington School of Medicine, conducted preclinical gene-transfer studies of the therapy at the UW Medicine Institute for Stem Cell & Regenerative Medicine.  Their research showed that the therapy successfully treated dogs with a form of muscular dystrophy. That same therapy is now being tested in the clinical trial of patients.

[Access downloadable video of the doctors discussing the interim finding.]

Most patients with the inherited disease do not reach 2 years old, said Childers. Several centers across the United States are participating in the trial, which consists of 12 patients up to 5 years of age. The patients are being evaluated for functional measures such as the ability to roll over, hold up their head and move their arms, as well as their ability to breathe.

“Initial results from the first patient were very encouraging,” Childers said. “The patient, who was very sick and very weak, is now reaching normal milestones and normal measures of function.”

Tests led at UW previously showed that the therapy restored muscle strength and prolonged lives in dogs that had a similar inherited neuromuscular disease.

Myotubular myopathy arises from a mutation in genes that normally make a protein, called myotubularin, essential for proper muscle function. The disease causes fatal muscle wasting. Both dogs and boys with the disease typically succumb in early life due to breathing difficulties.

A 2017 paper reported that diseased dogs treated with a single infusion of the corrective therapy were indistinguishable from normal animals one year later.

Related coverage: Groundbreaking treatment developed at UW Medicine (KIRO-TV)


Previous coverage:

SEATTLE – KIRO 7 has learned of a revolutionary treatment, here in Seattle, that has saved the lives of dogs and is just months away from being tested in children. In video obtained by KIRO 7, dogs that were destined to die show no signs of the disease after a single infusion of gene-replacement therapy.  The disease is so deadly in children, 50-percent of them die before their second birthday.

“This is a huge deal.  This is probably the most important thing we’ll ever work on,” said Dr. Casey Childers of UW Medicine.

For the past eight years, Childers has been focused on finding a cure for a form of muscular dystrophy called Myotubular Myopathy or MTM. It is a rare disease that affects the skeletal muscles.

“Patients are unable to walk. They’re unable to speak, unable to swallow and unable to breathe without assistance. It’s a childhood disease. It affects baby boys and it’s universally fatal. So it’s a bad, bad disease,” said Childers.

Myotubular Myopathy affects dogs, too. In UW Medicine video, never seen by the public until now, gene-replacement therapy has resulted in a remarkable transformation in dogs and a possible cure for MTM.

>>Videos of children, dogs with Myotubular Myopathy 

The search for a cure began with the search for a dog by a mother in Jacksonville, Florida. The son of Alison and Paul Frase was born with Myotubular Myopathy. Joshua Frase was born on February 2, 1995 with a devastating prognosis.

Read more here.