RARE Daily

Fight H-ABC Enters Sponsored Research Agreement with UMass, Yale

October 13, 2020

Rare Daily Staff

Foundation to Fight H-ABC said it entered into a sponsored research agreement with the University of Massachusetts Medical School and Yale University to advance a targeted gene therapy for the neurodegenerative condition H-ABC.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a leukodystrophy, a disease that affects the white matter of the brain and disrupts the growth or maintenance of the myelin sheath, a protective layer that insulates nerve cells and allows for the transmission of messages between cells.

“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 of Foundation to Fight H-ABC.

H-ABC is a rare, genetic, disabling and life-threatening condition caused by a mutation in the TUBB4A gene 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.

The teams of Guangping Gao at the University of Massachusetts Medical School and Karel Liem at Yale School of Medicine will combine extensive expertise in AAV gene delivery for the treatment of a variety of human diseases and H-ABC disease models, to develop vectors to silence or outcompete the mutated TUBB4A gene.

Photo: Michele Sloan, co-founder of Foundation to Fight H-ABC


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