Filiano Awarded Grant to Study Key Questions About Deadly Childhood Disease

Anthony Filiano, PhD
Anthony Filiano, PhD

Anthony Filiano, PhD, an assistant professor in the Duke Department of Neurosurgery, has received a $375,000 grant from the Rosenau Family Research Foundation for a three-year project titled, “Immune Responses in Peripheral Nerves After Hematopoietic Stem Cell Transplants for Krabbe.”

The grant will support Filiano’s research on Krabbe disease, a rare, often fatal childhood neurological disorder caused by mutations that lead to a toxic building of the molecule psychosine. If untreated, devastating effects of the disease can be fatal by age two. 

There currently isn’t a cure for Krabbe disease, and the only available treatment is stem cell transplants. While stem cell transplants benefit the brain, the disease continues to progress in the peripheral nerves, which are important for movement. Why these nerves are resistant to stem cell transplants is unknown and remains a critical barrier for patients diagnosed with Krabbe disease to lead a healthy life. Filiano and his team are trying to understand what causes the resistance.

“This is a huge problem for these patients, and to my knowledge, it really hasn't been addressed,” said Filiano, who is also an assistant professor in pathology and an assistant research professor in integrative immunobiology. 

“The peripheral nerves continue to degenerate, even though the transplants have halted the degradation of the brain,” Filiano said. “This award will allow us, for the first time, to investigate why this is happening.”

Filiano hopes this research will eventually lead to new or improved therapies to help with peripheral nerve recovery and significantly improve the lives of patients with Krabbe disease.

If treated with stem cell transplants before symptoms develop, some patients do well cognitively, and their brain development improves, Filiano said. However, many have limited mobility and experience pain. He recalls asking a patient how his research could make a difference. The patient shared how the disease had impacted her life; the simple act of getting up to go to the kitchen for a snack after school was incredibly painful. 

“If we were able to understand these mechanisms on why the current treatment strategies are not fixing these basic motor functions, we could help these patients do things that we take for granted,” he said.

Filiano’s lab is using mass spectrometry imaging to conduct the research, which Filiano said is a novel approach for studying the peripheral nerves in Krabbe disease. Filiano’s lab collaborates with Jerome S. Harris Distinguished Professor of Pediatrics Joanne Kurtzberg, MD, at the Duke Marcus Center for Cellular Cures.

“Instead of taking the reading from the whole tissue, we have the resolution where we can measure different molecules spatially across these nerves,” Filiano said. “Having that resolution and that spatial imaging will allow us to learn more about how these transplants are and are not helping these different types of tissues.”

The Rosenau Family Research Foundation is a private nonprofit organization that focuses on improving the lives of people impacted by Krabbe disease and cystic fibrosis through research funding and disease advocacy. RFRF has funded nearly $23 million in grants since 2009. 

By Bernadette Gillis
June 24, 2024