Dell Children’s leads fight against life-threatening disease

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Mom: “Thank you for bringing hope home to us.”belle and abby release small with subtext

Researchers at Dell Children’s Medical Center of Central Texas have launched a local clinical investigation of a potential treatment for a rare, often fatal genetic disorder known as Niemann-Pick Type C1 (NPC1).

“We want to commit our resources to doing what our mission says – to help the most vulnerable. Those for whom we have no treatment for conditions like these are indeed the most vulnerable,” geneticist James Gibson, MD, said.

Gibson’s team will lead Dell Children’s as one of multiple U.S. and international sites to conduct a double-blind clinical trial for effectiveness and safety of an injectable drug infusion that has previously shown useful in slowing the progression of NPC1.

The name of the experimental drug is VTS-270. If the trial proves successful and the drug wins FDA approval, it would be the first and only treatment for NPC1 in the U.S.

Dell Children’s is part of Ascension, the nation’s largest Catholic and nonprofit health care system.

One Austin family’s journey with NPC1

Belle and Abby Andrews’ family understands firsthand how bringing the NPC1 clinical trial to Central Texas can change a family’s future forever.

For years, Pam Andrews and her husband Chris struggled to pinpoint a reason for their daughter Belle’s unusual symptoms. “We knew she had an enlarged spleen, a low platelet count, and she was falling down all the time. We didn’t know what it meant, but we knew it wasn’t right,” said Andrews, mother of Belle (age 6) and Abby (age 2).

“For some families, it’s a diagnostic odyssey,” Gibson said. “It can be a long and difficult process if symptoms are only just starting to show, as they were for Belle.”

After numerous specialists and tests with no solid answers, the Andrews family turned to Gibson last fall, who diagnosed Belle with NPC1 in March 2016. Belle’s sister Abby was also identified with the same genetic markers for NPC1, but has not shown any symptoms.

NPC1 is a progressive, neurodegenerative and ultimately lethal genetic disease. Early in life, people with NPC1 develop movement and coordination problems, the inability to move their eyes, poor muscle tone, severe liver disease, and lung disease. They may have speech and swallowing problems that worsen over time and make it hard to eat. Often their cognitive abilities decline, and seizures are common. Belle has already shown several of these serious symptoms.

“We are racing against time,” says Andrews. “I just keep thinking, how can something so merciless happen to these sweet little girls, and to so many other children we’ve met who are living with NPC1.”

Creating access to lifesaving treatments in Central Texas

After being diagnosed, Belle and Abby began traveling every two weeks to Chicago to receive experimental treatment. Until now, Chicago was the easiest location for someone living in Central Texas to receive experimental care.

The physically and emotionally challenging, financially draining two-day journey requires Belle to travel by wheelchair through airports, and both girls undergo anesthesia followed by a spinal infusion. Belle is currently enrolled in the clinical trial, and Abby has been receiving the treatment via compassionate use in hopes of staving off symptoms.

“What we’re doing is not only for the families and the children in front of us, but also for those families and children we have yet to meet,” Gibson said.

“With our partner, Dell Medical School, Ascension Seton is building research capabilities that allow our physicians to bring the latest treatment options to our patients. Central Texas should be a place that others travel to for the best care,” said Ryan Leslie, PhD, vice president of academics and research at Ascension Seton.

An estimated one out of 150,000 people have NPC Type 1 or 2, most of which are type 1, according to the NIH – an estimate some experts suspect to be low. According to Vtesse, the company developing the drug, an estimated 45-55 patients living in Texas with NPC1 could potentially participate in the Dell Children’s drug trial.

Patients could start receiving the experimental drug in Austin as early as late October. As many as six people can join the local trial this year, according to Gibson’s estimates.

Pam Andrews says she’s deeply grateful for the commitment Dell Children’s has made to Central Texans living with NPC1. “Dr. Gibson and Dell Children’s, thank you for bringing hope home to us.”