Pembroke mom fights for accelerated cure for son
PEMBROKE, Mass. (AP) — New England Patriots players surrounded her, yet Christine McSherry of Pembroke could not take her eyes off 10-year-old Max as he ran around like a normal kid at a Patriots training camp event last August.
Max, like McSherry’s own 17-year-old son, Jarrett, suffers from Duchenne muscular dystrophy — a disorder, primarily seen in boys, that is caused by a mutation in the gene that codes for the muscle protein dystrophin.
Other forms of muscular dystrophy cause a decrease in dystrophin, but boys with Duchenne do not produce any of the protein. Many of them are confined to a wheelchair by age 12.
There is no approved treatment for Duchenne muscular dystrophy, which ultimately causes early death.
But as McSherry watched the hopping and skipping of Max, a boy whose strength was quickly decreasing a year prior, she felt reason for hope.
“There was a significant difference,” McSherry said recently. “This kid, you would have no idea there was anything wrong with him.”
The hope comes in the form of eteplirsen, a clinical drug made by Cambridge-based Sarepta Therapeutics. It has shown great potential for stopping the advance of Duchenne.
Founder of the Jett Foundation for fighting Duchenne muscular dystrophy, McSherry is taking to Capitol Hill to advocate for the accelerated approval of eteplirsen by the U.S. Food and Drug Administration.
A letter in support of the accelerated application was sent recently to the FDA. It bore the signatures of 32 members of Congress.
On July 9, McSherry spoke at a congressional briefing hosted by U.S. Rep. William Keating. U.S. Sen. Elizabeth Warren was collecting signatures from U.S. senators to send to the FDA before the agency was schedule to meet recently with Sarepta Therapeutics to discuss pursuing an accelerated application.
“Jett (Jarrett’s nickname) will be 18 in October, and the life expectancy is 20 — sometimes earlier, sometimes later,” said McSherry, who has been to Washington, D.C., six times since February. “How much red tape do we have to go through to save his life?”
Eteplirsen is designed to skip exon 51 of the gene to correct the mutation and restore the ability to make a form of dystrophin.
McSherry said Jett could have access to the drug by early 2014 if the approval goes forward “without any speed bumps.” It would then take six months for the drug to begin working, she said.
″(Jett’s) taking a different perspective on life, and planning for the future more now,” McSherry said.
While eteplirsen would help about 15 percent of boys with Duchenne, McSherry said its approval would open the door for the development of exon-targeting drugs to treat 80 percent of cases.
“We know that drugs for other exons are going to move years faster, and I’m not going away after eteplirsen’s approval. I’m going to continue this fight for the rest of the population,” she said.
Despite the stress, McSherry has nothing but praise for all sides. She said Sarepta has been “transformative and very transparent with data,” and she said the FDA has been nothing but responsive. She described her conversations with FDA personnel as “candid and warm.”
“It’s a hard thing to conceptualize, but, boy, I can’t stress enough how this technology can change genetic disorders. It’s not about Christine. It’s not just about Jett, and it’s not just about Duchenne. It’s about changing the face of genetics.”