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UMass Medical School licenses gene therapy approach for Leber congenital amaurosis

IVERIC bio, Inc . to exclusively develop and commercialize “minigene approach” to AAV gene therapy

Hemant Khanna, PhD
Guangping Gao, PhD

UMass Medical School has licensed the exclusive global rights to develop and commercialize novel adeno-associated virus (AAV) gene therapy product candidates for the treatment of Leber congenital amaurosis type 10 (LCA10) to IVERIC bio, Inc.

The minigene therapy approach was developed from research by Hemant Khanna, PhD, associate professor of ophthalmology & visual sciences, in collaboration with Guangping Gao, PhD, the Penelope Booth Rockwell Chair in Biomedical Research, professor of microbiology & physiological systems, founding director of the Horae Gene Therapy Center & Vector Core and co-director of LI Weibo Institute for Rare Diseases Research. The therapy approach will target the CEP290 gene, the most common cause of LCA, in a mutation independent manner.

“Our collaboration with IVERIC bio has moved our minigene approach to the next stage of development,” said Dr. Khanna. “It shows the potential of using a truncated gene to partly or completely compensate for the disease caused by the loss of CEP290 function.”

A degenerative disease, LCA is caused by a group of recessively inherited genetic mutations that lead to an inability to make a light-sensitive protein in the retina. Mutations in the CEP290 gene are the most common cause of LCA, responsible for up to 25 percent of cases.

While recent forays into gene therapy approaches for other forms of LCA have been encouraging, the large size of CEP290 has been a roadblock to using AAV vectors, which are the conventional means to transport a correct gene into the eye. In 2017, Khanna developed an approach to deliver a shorter version of the human CEP290 gene with clinically safe, AVV viral vectors.

Additionally, IVERIC Bio and UMass Medical School have expanded their collaboration by entering into a sponsored research agreement and an exclusive option agreement for rights to develop and commercialize novel AAV gene therapy product candidates utilizing a mutation independent minigene therapy approach for the treatment of vision loss in autosomal recessive Stargardt disease and USH2A-related inherited retinal diseases (IRDs). These are a group of large orphan IRDs, the latter of which includes Usher syndrome type 2A and USH2A-associated nonsyndromic autosomal recessive retinitis pigmentosa.