The Foundation to Fight H-ABC, a nonprofit organization dedicated to increasing awareness and driving development of a cure for this rare degenerative children's disease, has announced sponsored research agreements with UMass 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 of the 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 and cannot walk, talk or sit on their own. There is no known cure for this disabling and life-threatening condition.
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 at UMMS, and Karel Liem Jr., MD, PhD, at Yale School of Medicine, will develop adeno-associated virus (AAV) vectors to carry genetic material that could silence or outcompete the mutated TUBB4A gene.
"To date, the AAV-based gene delivery system is the vector of choice for in vivo gene therapy for many currently untreatable rare diseases, including H-ABC," said Dr. Gao. "We are very excited to start this close collaboration with Dr. Liem's team at Yale and with the Foundation to Fight H-ABC to develop potential gene therapeutics for this devastating disease."
"With the support from the Foundation to Fight H-ABC, we are excited to build upon our mechanistic studies of the disease and to collaborate with Dr. Gao to develop and test AAV approaches to H-ABC," said Dr. Liem.