October 1, 2024 (AUSTIN AMERICAN-STATESMAN) Six years ago, Austin sisters Belle and Abby Andrews were diagnosed with Niemann-Pick Type C1, a rare genetic disorder sometimes called childhood Alzheimer’s. Belle, who was 6 at the time, was falling often and having some learning differences. Abby, then 2, had no symptoms but was diagnosed early because of her sister’s diagnosis.
The life expectancy for a child with Niemann-Pick is 13 years because of the damage the disease does to the brain cells. The genetic disease, which affects 1 in 100,000, did not have an approved treatment until last week.
The U.S. Food and Drug Administration approved two new treatments, one of which is from Austin-based IntraBio.
IntraBio’s drug, Aqneursa, is a powder that can be put in water, juice or almond milk or through a feeding tube to help improve energy production by cells. In kids with Niemann-Pick, the parts of the cells that are supposed to clear away the old molecules don’t work. All of this particle build up causes the cells to become inefficient.
“We believe it seems to be normalizing energy production,” said Taylor Fields, the chief product development officer and president of product development at IntraBio. Aqneursa helps the cells add energy to work more normally.
Aqneursa isn’t a cure, Fields said, but it does have “disease modifying neural protective” properties.
In a study published in the New England Journal of Medicine, the patients on Aqneursa showed improvement to their neurological signs and symptoms within 12 weeks of starting the medication. The researchers measured walking, sitting, stance and speech of patients receiving the medication.
The side effects were abdominal pain, difficulty swallowing, upper respiratory tract infections and vomiting.
The medication is approved for anyone weighing 15 kilograms or more (roughly 33 pounds), and is given three times a day. IntraBio has not released the cost of its medication and did not answer questions about pricing but said it has an access program that will help cover the cost of the medication while working with insurance to pay for it.
The medication also can be given with an older medication, Miglustat, which has been used off-label for children with Niemann-Pick.
Another medication, Miplyffa, from Zevra Therapeutics in Florida, also got FDA approval for people with Niemann-Pick last week. It works in combination with Miglustat and targets transcription factors in the cells that regulate immunity and inflammation to help the cells work more effectively despite the genetic mutations.
It is given in a capsule for people age 2 and older. It showed progress in speech, swallowing, fine motor skills and walking. Side effects were upper respiratory tract infections, diarrhea and decreased weight.
The price of Miplyffa is expected to be $85,000 a month on average depending on the dosing, the company announced. It also has access programs to help pay for the medication while working with insurance.
Belle and Abby’s mom, Pam Andrews, said she and her husband, Chris, and the Firefly Fund they founded, are “thrilled with the approval of both therapies, and we can’t wait to add them to the arsenal for Belle and Abby.”
The thought leaders in the Neimann-Pick community believe that the best way to turn the disease into a chronic rather than a fatal one is through multiple medications that do different things in the body, Andrews said.
“It is an emotional time for the NPD community and one that we have hoped and prayed for … since we arrived on the scene in 2016. Honestly, this is all a dream come true,” she said.
“It means that we get more tomorrows. And really that is all that we have ever dreamed of, is more tomorrows with the ones we love.”
Firefly Fund born out of need for research, treatment
At first, Belle and Abby traveled every two weeks to Chicago to be part of a clinical trial of a medication given by lumbar puncture that still hasn’t achieved FDA approval. Then they were able to do the trial in Austin at Dell Children’s Medical Center.
FDA approval for that medication might come next year, but when it looked as if the treatment might end, there was a sense of hopelessness for the Andrewses. They credit treatment as the reason Abby has not shown symptoms of Niemann-Pick and Belle’s disease has not progressed more quickly. She is now 12, and Abby is 8.
Almost from the start, the Andrewses had some goals: to raise money for more research and more treatments, and to get Niemann-Pick on the newborn screening — that heel stick that every newborn gets at birth and two weeks later. They started Firefly Fund to achieve those goals.
As IntraBio was working on Aqneursa, Firefly Fund began regular meetings with the leaders, as well as other pharmaceutical companies doing research on medications for Neimann-Pick.
IntraBio’s Fields says families like the Andrewses, and the others it worked with, are key to the research.
“The patients, their families and the parents are spending every day with the disease,” she said. “They’re amazing partners.”
Approved treatments could mean earlier testing
In order to get a disease approved to be part of the newborn screening, there has to be a treatment doctors can offer the baby.
The general practice of that committee, which hears proposals on what diseases should be added to the Recommended Uniform Screening Panel, is to screen only for conditions that have a treatment that will make a measurable difference when given early.
A doctor in New York has been working on getting newborn tests for Niemann-Pick created and testing their efficacy.
Once that is done, and the treatments are shown to be effective, a case can be made at the federal and state levels to test kids for Niemann-Pick at birth.
With Niemann-Pick, like so many other neurological disorders, the damage to the brain cells is happening before the symptoms appear.
“We really do believe that early detection and diagnosis are going to be paramount to care,” Fields said.
As Chris Andrews envisioned: “One day, a doctor will walk into a hospital room to talk to two new parents. The doctor will tell them, ‘Because of newborn screening, we discovered that your child has a rare disease called Niemann-Pick Type C1. However, it’s going to be OK. We have a cure.’ On that day, we will take a plane, a train, a car, whatever it takes to get to that newborn. We will walk into the hospital room and kiss that child on the head. That will be the day that Firefly Fund has accomplished its mission.”
AUTHOR: Nicole Villalpando – Austin American-Statesman