‘Very disheartening and frustrating’
FDA pulls trial drug; parents fear it could be a death sentence for their boys
When the U.S. Food and Drug Administration last month declined to review a drug that could save the lives of her two children, Joanna Johnson, a Unionville High School Spanish teacher, is afraid what the future will bring.
Elliott, 13, and his brother, Henry, 10, suffer from Duchenne muscular dystrophy (DMD), a rare form of muscular dystrophy that causes muscle weakness. Those suffering from this disease eventually lose the ability to care for themselves, and usually die before turning 25. DMD affects approximately one in every 3,500 boys born each year.
The FDA recently issued a Refusal to File letter for PTC Therapeutic’s oral, first-inclass, protein restoration therapy Translarna, stating that “the application was not sufficiently complete to permit a substantive review.”
Translarna, licensed in Europe for the treatment of patients aged five and above, is designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation, an alteration in the genetic code that prematurely halts the synthesis of an essential protein.
“This is very disheartening and frustrating,” Joanna Johnson said. “We were lucky enough to get our boys
in this trial. There are kids all throughout the country who have the same genetic mutation that Elliott and Henry have. They cannot get access to the drug until the FDA decides on a path forward.”
Elliott, a student at Downingtown Middle School, is still ambulatory and takes a scooter to school to conserve his energy. So far, he has not had cardiac or pulmonary concerns and has lost no upper body function. He plays the drum in the school band.
Henry, a student at Bradford Heights Elementary School, plays soccer.
Without hope of a drug that offers a cure, both boys can expect to live to their mid-20s.
“The trials offered tremendous hope,” Johnson said. “My goal is to keep life for them as normal as possible and to have them have a normal social life and do things their friends can do. But the bottom line is they don’t have time because this is a progressive muscle wasting disease. Every day, they lose muscle, lose function.”
Joanna and her husband Paul became active to form a parent project that developed into Run for Our Sons after their sons were diagnosed with DMD in 2007. Over the last six years of Unionville Run for Our Sons, more than $350,000 has been raised to support Duchenne research.
“I have gone to Washington to advocate for this drug,” Joanna Johnson said. “I told Elliott (that the FDA will not review the drug), and he says they are being stupid. It’s almost like they have shut the door without considering the totality of the data. We don’t have the luxury of a large patient population in studies that take place over years. There just isn’t much time we have.”
“My goal is to keep life for them as normal as possible and to have them have a normal social life and do things their friends can do. But the bottom line is they don’t have time because this is a progressive muscle wasting disease.” — Joanna Johnson, mother of Elliott and Henry, who have Duchenne muscular dystrophy
The Johnson family, Joanna and Paul, and their children, Elliott and Henry.