New Hampshire family hopes for FDA approval of muscular dystrophy drug
Published 11:02 am Tuesday, May 10, 2016
- Jon, Declan, Liam, Keely, Kira and Connor Mullaly, from left, wear matching "End DMD" shirts in support of Connor, far right, who has Duchenne muscular dystrophy.
WINDHAM, N.H. — Despite being diagnosed with autism and Duchenne muscular dystrophy, 8-year-old Connor Mullaly is always sporting a smile.
Connor has a wide-toothed grin as he dances around the living room to electronic dance music, his favorite genre.
But doctors are unsure how much longer he’ll be able to sway and bounce to the hard-hitting beat.
Medical experts say Duchenne muscular dystrophy will put Connor in a wheelchair within the next five years, and the disease is expected kill him by the time he’s in his 20s.
Fifteen out of every 100,000 males ages 5 to 24 were affected by the disease in 2007 — the year before Connor was born, according to the most recent statistics from the U.S. Centers for Disease Control and Prevention.
The second-grader’s diagnosis came when his parents, Kira and Jon Mullaly, realized their son wasn’t meeting speech and growth milestones at age 3.
The genetic disorder, which causes progressive muscle degeneration and weakness, was then discovered by doctors.
Even with the DMD diagnosis, something didn’t seem right. Doctors found Connor had autism a year later.
While catering to Connor’s daily needs, Kira and Jon have learned of a drug that could delay his impending immobility.
A panel that advises the Food and Drug Administration recently considered a drug called eteplirsen, which has the potential to allow those with the genetic disorder to walk on their own for longer. The FDA regularly uses “50 committees and panels to obtain independent expert advice on scientific, technical, and policy matters.”
Kira first heard of it while talking to other parents of children with DMD on Facebook. After researching the drug, she threw her full support behind it.
The family of six — Jon, Kira and their children Connor, Declan, Liam and Keely — traveled to Washington, D.C., two weeks ago when the drug being reviewed.
“There were two rooms filled with people. We were in an overflow space with hundreds of others,” Kira said. “We didn’t get to speak, but there were doctors testifying, parents and kids on the drug who all thought it should be approved.”
Unfortunately, the result was not what the family had hoped.
The panel decided against formally supporting eteplirsen because “it did not provide statistical evidence to support the efficacy in subjects who have a confirmed mutation of the DMD gene,” a preliminary report said.
The final FDA decision will come May 26. The federal agency isn’t required to follow the panel’s advice.
“I’ve heard that generally if the advisory committee approves something, (the FDA) usually does, too,” Kira said. “But because the votes were divided, I’m not sure what they’re going to do in this case. The biggest thing is that the drug is safe. There have been no adverse side effects, which is kind of unheard of.”
Over the last several months, Kira said she’s noticed her son becoming fatigued quicker than normal, but his overall health has been “pretty good.”
Family members said they remain hopeful the FDA will decide in favor of the drug later this month.
Edelstein is a reporter for The (North Andover, Massachusetts) Eagle-Trbune.