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End AxD funds gene therapy research for Alexander disease

Jun Xie, PhD, and Guangping Gao, PhD

The foundation End AxD, a nonprofit dedicated to research, treatment and a cure for Alexander disease, has donated $74,000 to UMass Chan Medical School to explore a gene therapy treatment for the fatal neurological disease.

The funding will go to Jun Xie, PhD, associate professor of microbiology & physiological systems, and Guangping Gao, PhD, the Penelope Booth Rockwell Professor in Biomedical Research, professor of microbiology & physiological systems, director of the Horae Gene Therapy Center and co-director of the Li Weibo Institute for Rare Diseases Research at UMass Chan, who have developed an adeno-associated virus vector that can express a small RNA silencer that suppresses the mutant proteins that cause AxD in mice.

“We are enthused by the generous donation from the End AxD foundation,” said Dr. Gao. “This support will allow us to move forward in our investigation to an advanced animal model for AxD. This is a critical, preclinical step to translating from bench to bedside, and bringing gene therapy to patients in the clinic who are struggling with this deadly disease.”

“Silencing GFAP, the mutant protein that causes AxD, with our artificial miRNA could be a promising therapeutic approach to treatment,” said Dr. Xie. “With the backing of End AxD, we will take the next step in moving our research forward.”

A rare, inherited disorder of the nervous system, AxD affects approximately one in 1 million. AxD results in the destruction of myelin, the fatty covering that insulates nerve fibers, that is crucial for the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses becomes disrupted. As myelin deteriorates, nervous system functions become impaired. Cases of AxD most often manifest with megalocephaly, hypomyelination, developmental delay seizures and progressive deterioration in infancy or early childhood. There is no cure for AxD. Current treatments for the disease are only supportive.

“End AxD is excited to be able to support Dr. Gao and Dr. Xie and their gene therapy approach to treating AxD,” said Leigh McClure, executive director of End AxD. “Dr. Gao and Dr. Xie are at the forefront of developing novel gene therapy treatments for rare nervous system disorders. Their expertise and contributions to the potential development of a treatment, and eventual cure, of Alexander disease, will bring hope and help those with this disease potentially get the care they need.”