‘She will die without this medication’: Toddler’s life hangs in balance after ‘miracle’ drug discontinued

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    MINNEAPOLIS (WCCO) — A Minnetonka family is fighting for the life of their 2-year-old daughter after the announcement that her “miracle” medicine will be discontinued.

Doctors diagnosed Emma Peterka in September with an ultra-rare genetic disorder called Niemann Pick Type C, or NPC.

“It was absolutely devastating,” said Sara Peterka, Emma’s mother.

Emma had fallen behind in her development. She was losing strength and her ability to move and communicate.

NPC is a progressive, neuro-degenerative disease with no cure. Sara says there are about 500 known cases in the world.

“We honestly weren’t sure what Christmas was going to be like because she had been deteriorating so much,” Sara said.

A leading expert on NPC at the Mayo Clinic connected the Peterkas with a program at Rush University Medical Center in Chicago, where they now travel every other week to give Emma a spinal injection of an experimental treatment drug called adrabetadex.

Mitch Peterka, Emma’s father, says the medicine restored the light in his daughter’s eyes and the glow in her smile.

“She’s gotten stronger. She’s able to sit up on her own nice and straight,” Mitch said. “She’s giggling, she’s communicating, she’s making noises. It’s really exciting.”

Then in January, the pharmaceutical company behind adrabetadex, Mallinckrodt, announced it would be discontinuing the drug in October. It’s put the Peterkas in a race against the clock.

“Ultimately, she will die without this medication,” Mitch said.

Mallinckrodt says there was no clear evidence that the drug worked in their trials, which didn’t include Emma’s program.

In a lengthy statement that can be found below, the company said in part, “We sincerely wish the outcome had been different … This decision was difficult for Mallinckrodt as we recognize the critical need for new treatment options for NPC.”

The Peterkas are fighting for a solution, with help from their doctor in Chicago, Dr. Elizabeth Berry-Kravis.

“We will be working with them until the bitter end, and I can’t promise that we are going to find a way to go past October, but we are going to explore every option,” Berry-Kravis said.

The Peterkas are raising money, along with the entire NPC community, to secure drug access past October. Dr. Berry-Kravis says that most likely means working with a new drug company and pushing the United States Food and Drug Administration for approval through alternative paths. Click here to donate.

For more information, visit dontgiveuponnpc.com and find “Don’t Give Up on NPC” and “Brave Like Emma” on social media.

Here is the full statement from Mallinckrodt:

Mallinckrodt deeply acknowledges the disappointment the community, families and patients are experiencing as a result of our decision to discontinue the development of adrabetadex as a potential treatment for Niemann-Pick Type C (NPC) disease. Over the years, we have come to know many of the families and children impacted by NPC, and like them, we sincerely wish the outcome had been different.

Since acquiring the drug in 2018, Mallinckrodt invested substantially in investigating adrabetadex as a possible treatment for this ultra-rare and devastating disease. Throughout this process, we have worked closely with the U.S. Food and Drug Administration (FDA) and other regulatory authorities, the National Institutes of Health (NIH), study investigators and NPC experts, seeking their input and guidance.

We are aware that some families and their physicians report seeing benefit in children being treated with adrabetadex. These reports and case studies were the reason we were hopeful the scientific study would also demonstrate evidence of benefit for patients with NPC. However, after exhaustive analysis of clinical data, there is no clear evidence that adrabetadex changes or improves disease progression across the group of patients that were studied. An independent data and safety monitoring review board evaluated these data and outcomes and agreed with our assessment. This decision was difficult for Mallinckrodt as we recognize the critical need for new treatment options for NPC and know how hopeful the NPC community was that adrabetadex would become available for widespread use.

As we announced publically in January of this year, we will continue to provide adrabetadex through October 2021 to existing eligible patients already receiving treatment in current studies and expanded access programs. This will allow time for physicians and patients/families to develop a plan for when adrabetadex is no longer available.

We are deeply grateful to the patients, caregivers, clinicians and patient advocacy groups for their participation and support of the adrabetadex clinical development program. We remain hopeful that new treatment options for NPC are on the horizon.

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