Rowan researcher targets stem cell-based therapy for rare childhood disease

Rowan researcher targets stem cell-based therapy for rare childhood disease

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$477,000 federal grant supports research project

STRATFORD – Paola Leone, PhD, the director of the Cell and Gene Therapy Center and a professor of Cell Biology at the Rowan University School of Osteopathic Medicine (RowanSOM), has been awarded a three-year, $477,000 grant from the National Institute of Neurological Disorders and Stroke (NINDS) to develop a stem cell-based therapy for Canavan disease, a rare but devastating neurological disorder in children that typically takes a child’s life by age 10.

“Canavan disease is a fatal, inherited disease caused by a mutation in the aspartaocylase gene,” Dr. Leone explained. “The disease is characterized by progressive and severe brain atrophy that manifests in delayed development, developmental regression, microcephaly, spasticity, seizures, visual impairment and short life expectancy. There, currently, is no treatment or cure for Canavan disease.”

Under Dr. Leone’s direction, a team of RowanSOM researchers and students will examine the potential of stem cells for the treatment of Canavan disease in an animal model. This new study will build on the research team’s preliminary data that demonstrated the successful engraftment of stem cells in animal models.

“Our project will generate pre-clinical data to support the development of a stem-cell based therapy for Canavan disease,” Dr. Leone said. “It will also provide an important opportunity for a new generation of clinical researchers. Both undergraduate and graduate students will participate in this project, providing them with valuable experience to work with an extremely promising therapeutic intervention.”

The symptoms of Canavan disease usually appear within the first six months of a child’s life. The disease is caused by a genetic mutation that stops cells, called oligodendrocytes, from developing myelin, the fatty substance that coats the nerves in the brain. Without the protective myelin covering, the nerves do not form properly, causing the brain to atrophy. The preliminary research that Dr. Leone conducted showed that the engraftment of stem cells promoted significant recovery of the myelin sheath surrounding the nerves.

“Our research represents a significant departure from other studies that have focused solely on strategies to augment the loss of the aspartaocylase function that is highly reduced in the brains of these patients,” Dr. Leone said. “We believe that any strategy seeking to treat Canavan must include a way to restore the myelin development that is disrupted in children with this disease.” 

This research is supported by the NINDS of the National Institutes of Health, under grant number 1R15NS088763-01A1.