Beverly family to lobby for muscular dystrophy drug
BY PAUL LEIGHTON STAFF WRITER
BEVERLY — A Beverly family is headed to Washington, D.C., to advocate for a new drug that they say might save their son’s life.
Natalie, Paul and Max Gaudenzi plan to attend a conference and meet with congressmen to push for an accelerated approval process for eteplirsen, an experimental drug that has raised hope in clinical trials with boys with Duchenne muscular dystrophy.
Max Gaudenzi, a 17-year-old junior at Beverly High School, has the genetic disease, which results in progressive muscle weakness and is ultimately fatal.
“It’s very exciting because we’ve never seen anything this promising,” said Natalie Gaudenzi, Max’s mother.
The Gaudenzis will attend an annual conference run by Parent Project Muscular Dystrophy, a nonprofit based in New Jersey that focuses on Duchenne muscular dystrophy, which affects about one in every 3,500 boys.
Conference attendees are scheduled to meet with several congressmen, including John Tierney of Salem. The Gaudenzis have written a letter to Tierney asking him to contact the U.S. Food and Drug Administration to speed up the approval process for eteplirsen, a drug that is being developed by Sarepta Therapeutics of Cambridge.
In a clinical trial, boys who received the highest dose of the drug had a slightly improved ability to walk and increased amounts of dystrophin, the protein that enables muscles to operate properly, according to the company.
Natalie Gaudenzi said advocates want the FDA to approve an accelerated process that would allow the company to skip a testing phase that could take two years. Young men with Duchenne typically live only until their late 20s.
“We just don’t have that time,” she said.
Max Gaudenzi uses a wheelchair and needs help with daily tasks such as brushing his teeth or even scratching his face. His mother said the new drug, and future drugs that use the same concept of combating the disease, could stabilize his muscle loss and ultimately save his life.
“I’m not saying he would walk again. I don’t know about that,” she said. “If he could feed himself, that would be an enormous milestone. That would be to me a significant milestone for Max and improve his lung and heart function. If he can’t sustain that, he won’t live.”
Tierney said he is pleased that the FDA has shown an interest in pursuing accelerated review of eteplirsen.
“The concept of fast-tracking review warrants consideration if it is conducted in a manner that avoids any conflicts of interests and focuses on the patients’ interests,” Tierney said in a statement. “I look forward to meeting with local residents and advocates next week to hear more about what can be done to help families affected by muscular dystrophy.”
Tierney also said he has been a longtime supporter of the MD-CARE Act, which was passed by Congress in 2001 to boost federal research on muscular dystrophy.