How Biomarker Testing Changed Everything for a Patient With Brainstem Glioma

When Ben S-L. misjudged a corner and walked straight into a wall at work, he realized something wasn’t right. This incident, combined with his increasing headaches and a numb tongue, led Ben to see a neurologist and demand an MRI. Two weeks before turning 32, doctors diagnosed Ben with an inoperable high-grade brainstem glioma. Ben likes to say he turned “thirty-tumor.”

Before starting radiation and chemotherapy, Ben took steps to preserve his fertility by freezing his sperm. After a grueling year of chemo and radiation, Ben knew he needed to look for other treatment options.

“There’s a tendency when we get diagnosed to sit back and take what the doctors give us,” Ben said. “But it’s so much more than that. My life was at stake. I just wouldn’t stop. It’s so important to advocate for yourself and ask the tough questions.”

Undergoing Biomarker Testing

Determined to find the best path forward, Ben started researching other options. A close friend, a biomedical researcher, encouraged him to explore biomarker testing, a process that identifies genetic or molecular characteristics of a tumor to guide personalized treatment decisions. This decision to get biomarker testing done would ultimately change the course of his treatment.

Ben specifically tested for the H3K27M mutation to see if he would qualify for the ONC201 clinical trial. 

“The chemo and radiation was just keeping me alive for a short period of time, and there were no real options after that,” Ben said. “We basically wanted to keep me alive until a miracle came around, and that miracle presented itself as ONC201, which specifically targets the H3K27M genetic mutation. That was my impetus to get biomarker testing done.”

Around the same time he learned that he did have the mutation, Ben and his wife found out they were pregnant after their fourth intrauterine insemination (IUI) try. 

Securing Expanded Access

Ben discovered that despite having the H3K27M mutation, he didn’t qualify for the ONC201 trial because his tumor had not progressed. But that didn’t mean he was out of options. He successfully advocated for access to ONC201 through an expanded access program, which allows certain patients to receive investigational treatments outside of clinical trials before FDA approval. In Ben’s case, testing positive for the H3K27M biomarker made him eligible for the treatment.

Patients and families can contact select U.S. hospitals participating in the ONC201 Expanded Access Program to discuss eligibility and enrollment timelines. A list of hospitals is available on ClinicalTrials.gov. Enrollment must be coordinated by the treating physician and institution in partnership with Chimerix before treatment begins.

Ben, a Northern California resident, found a center in Seattle (University of Washington) that had the trial and was willing to take him on. He traveled there frequently until the trial site abruptly closed during the COVID pandemic, and he then transferred his trial to Los Angeles. 

Now, seven years after his diagnosis, Ben still takes the ONC201 investigational medicine and has seen a decrease in tumor size. He continues to work with his health care team to learn as much as he can about his tumor.

“I literally was at my oncologist’s office yesterday, and we did some more testing just for data to see if there’s anything else that would be helpful down the road,” Ben said.

TAGGED WITH: brain cancer, biomarker testing