Foundation to Fight H-ABC, University of Massachusetts Medical School and Yale University Initiate Gene Therapy Study Targeting Cure for Rare Disease
ROCKVILLE, Md., Oct. 13, 2020 /PRNewswire/ — Foundation to Fight H-ABC, a non-profit organization dedicated to increasing awareness and driving development of a cure for the degenerative children’s disease, H-ABC, today announced a sponsored research agreement with the University of Massachusetts Medical School and Yale University to advance a targeted gene therapy for H-ABC.
“We have high hopes to quickly prove efficacy with this approach to move research forward and find a permanent cure for this devastating disease,” said Michele Sloan, Co-Founder, Foundation to Fight H-ABC.
H-ABC (hypomyelination with atrophy of the basal ganglia and cerebellum) belongs to a group of conditions called leukodystrophies, diseases that affect the white matter of the brain. These diseases disrupt the growth or maintenance of the myelin sheath, a protective layer that insulates nerve cells and allows for the transmission of messages between cells.
Caused by a mutation in the TUBB4A gene, H-ABC is a rare genetic disorder that affects certain parts of the brain—specifically the basal ganglia and the cerebellum, which control movement. H-ABC targets these important structures, reducing both their size and function. As a result, children who suffer from H-ABC often experience motor problems, cannot walk, talk, or sit on their own. Currently, there is no known cure for this disabling and life-threatening condition.
The teams of Dr. Guangping Gao (University of Massachusetts Medical School) and Dr. Karel Liem (Yale School of Medicine) will combine extensive expertise in the fields of Adeno-associated virus (AAV), a platform for gene delivery for the treatment of a variety of human diseases and H-ABC disease models, to develop AAV vectors to silence or outcompete the mutated TUBB4A gene.
“To date, AAV-based gene delivery system is the vector of choice for in vivo gene therapy of many currently untreatable rare diseases including H-ABC,” said Guangping Gao,