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Family hoping for FDA approval of MD drug

Orchard Park Bee


Diagnosed with Duchenne muscular dystrophy when he was 2, Tommy Parzymieso, a 9-year-old Eggert Elementary student, has been battling the disease most of his life as his family seeks a drug to aid his fight against the progressive muscle-wasting condition.

Tommy's mother, Susan, has been the family's primary advocate, spending her days and nights researching drugs that could help her son, whose body lacks dystrophin, the protein needed to regenerate and repair muscle tissue.

Soon after his diagnosis, Susan Parzymieso began hearing about Ataluren, a drug that has been in clinical trials since 2006 and one that could help those with Duchenne. In 2010, the family received the results of a genetic test that showed Tommy had the type of mutation that would be helped by the drug. Since Ataluren is a mutation specific drug, it benefits only 13 percent of boys with Duchenne.

On Sept. 28, Parzymieso was invited along with several other families and medical community members to the first Food and Drug Administration advisory committee meeting to discuss Ataluren.

The meeting was held after PTC Therapeutics, the company that developed the drug, filed on two separate occasions a new drug application with the FDA. Both times the FDA refused to accept the filing. After the second refuse to file, Parzymieso said PTC filed a new drug application under protest. This led to an advisory committee meeting, and subsequently, Parzymieso's involvement.

PTC has had a relationship with Parent Project Muscular Dystrophy, a not-for-profit organization that does fundraising and advocacy for muscular dystrophy research, of which Parzymieso is a part. Due to the relationship, the not-for-profit reached out to see if Parzymieso would speak on behalf of the unmet need.

During the meeting, PTC presented its data on why the drug should be approved. The FDA also presented data on why the agency thinks the data is ineffective.

Parzymieso, who is an advocate for the 21st Century Cures Act, a recent piece of legislation to get drugs from development into clinical trials and approved for use, is hoping her testimony on Ataluren gets it approved.

Parzymieso was one of 28 parents, doctors and physical therapists to testify.

"I stood up there with three other families whose children have not been able to gain access to Ataluren," Parzymieso said.

Ataluren has been in clinical trials since 2006 for boys with Duchenne.

The process of trying to get into one of the trials has been incredibly frustrating for Tommy and his family.

Parzymieso said Tommy has missed the age requirement on two separate occasions to be in one of the trials.

In 2013, a trial was opened for boys ages 7 to 10 when Tommy was 5, and enrollment was closed before he turned 7. On the heels of that trial, another was opened for boys up to and including age 5. Tommy was already 6 when that study began.

"He's one of a small handful of boys in the world that has not been able to access this drug," said Parzymieso about Ataluren, which is conditionally approved in Europe.

Denied on two occasions, Parzymieso described the process as excruciating.

"That's the word I used when I testified before the FDA," she said. "I'm sitting here waiting and watching everybody else get their chance at this drug."

Parzymieso said she stressed to the FDA that every day they wait for approval is another day when individuals with Duchenne lose muscle function.

"We don't have time to wait for the FDA to require more clinical trials and more studies of this drug," she said. "We don't have time to wait for them to deny approval of this drug and then wait for some other therapy that's not yet been discovered to come down the line."

Following the hearing, the 11-person committee voted 10-1, saying more data is needed to see if the drug is effective. The drug will go up for FDA review on Tuesday, Oct. 24.

Parzymieso said the one panel member who voted in favor of Ataluren being approved said he read almost 100 comments of written testimony on the drug.

On Oct. 24, the FDA will take the committee's recommendations under advisement and decide to accept the findings and request another clinical trial, deny the application or grant an accelerated approval of the drug.

If approved, Ataluren would be taken daily. Parzymieso said advocates are still working on a cocktail of drugs that could be taken together to combat Duchenne. Ataluren would be a significant member of the cocktail.

Parzymieso said the drug is not a cure for Duchenne, but she added that the drug creates a better quality of life.

Duchenne sees boys lose the ability to walk between 9 and 12 and have their motor skills diminish in their teens. Parzymieso said some on the drug have walked into their 20s and have more energy than those who haven't been exposed to it.

Clinical trials also show an improvement in skeletal and pulmonary function, Parzymieso said.

In the last year, Parzymieso said the family has begun to travel out of state to Nationwide Children's Hospital in Columbus, Ohio, considered one of the best Duchenne care centers in the country. Tommy will still go to his local team of doctors who are also helping in the process.

In November Tommy began taking steroids due to a significant regression in his ability to function. Parzymieso said her son was falling nearly every day at school.

"We immediately saw an improvement in his function; he responded very well and quickly to the steroids," she said. "He feels like he's gotten back to his baseline with respect to his energy and being able to stay on his feet."

Tommy will also use a scooter at school as needed if his muscles are feeling tired.

He also has been taking a preventive heart medication, spironolactone, to help against the disease.

"We know all of the boys are in cardiomyopathy, and the hope is if we can treat it before we can see it on the film or in the reports, we can delay its true onset and keep their hearts functioning longer," said Parzymieso about the heart medication.

Tommy remains in good spirits. Parzymieso said he's been elected to Student Council, is playing hockey and is serving as the honorary captain for Orchard Park's varsity football team.

Parzymieso feels that she and others have presented a strong case for the drug to be approved.

"They're saying we haven't shown that the drug has improved these kids, but you have to consider that without the drug they're already regressing each day," she said. "Any improvement, no matter how small, is still a miracle for these kids. Maintaining function is an incredible win even though it might not be statistically significant under the old paradigm of the FDA."

More than 80 doctors have also submitted letters to the FDA asking for the approval of Ataluren.

"We have a child that has no options, and we know each day he regresses," she said. "We want the chance for a safe drug to try and see if we can give him some hope, benefit and chance to be an outlier on this disease and have a course that's different than those that came before him."

Next week, if the FDA accepts the findings, the Parzymieso family will once again be faced with the question of "What's Next?" Parzymieso said the family will continue to look for a way to help Tommy in his battle.

"We'll keep doing what we've been doing, constantly researching and staying connected with the community to find out what drugs are coming into clinical trials, what's being done in the labs, what is showing promise," she said. "We keep on pushing on and not expecting no as an answer."


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