Jul 7, 2020

Biogen Entering into Licensing Agreement with Mass Eye and Ear to Develop PRPF31 Gene Therapy

Eye On the Cure Research News

The goal of the partnership is to advance a PRPF31 gene therapy into a clinical trial

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Biogen, a global biopharmaceutical company, has entered into a licensing agreement with Mass Eye and Ear’s Ocular Genomic Institute to develop a gene therapy for people with mutations in the gene PRPF31, a frequent cause of autosomal dominant retinitis pigmentosa (RP). The collaborators will be conducting lab studies to advance a PRPF31 gene therapy into a clinical trial.

In previous lab studies, researchers at Mass Eye and Ear used a PRPF31 gene therapy to restore normal function to the retinas of mice with PRPF31 mutations as well as human retinal pigment epithelial (RPE) cells with PRPF31 mutations in a dish. RPE cells provide support to photoreceptors, the cells that make vision possible. PRPF31 mutations affect both RPE cells and photoreceptors.

The human cells used in the Mass Eye and Ear study were derived from a PRPF31 patient’s induced pluripotent stem cells (iPSC). Researchers create iPSC by taking a small sample of a patient’s skin or blood and genetically modifying those cells so they revert back to a stem-cell state. In the study, the iPSC were directed to develop into RPE cells.

PRPF31 is an attractive candidate for retinal gene therapy because only the mutated copies of the gene need to be replaced — a process that requires only one step. In contrast, many other autosomal dominant conditions may require that the mutated copies be inactivated and replaced, which is a more challenging, two-step process.

“We are pleased to see backing from Biogen for the PRPF31 gene therapy project to advance it toward a clinical trial,” says Brian Mansfield, PhD, executive vice president for research and interim chief scientific officer at the Foundation Fighting Blindness. “Dr. Eric Pierce and his team at Mass Eye and Ear are leading experts in inherited retinal diseases. The team has made pioneering contributions to the discovery of the genetic causes of the IRD and it is exciting to see their outstanding work in PRPF31 moving forward. The emerging therapy addresses the second most common form of autosomal dominant retinitis pigmentosa.”

From 2005 through 2015, Dr. Pierce led the Foundation’s Scientific Advisory Board.

Biogen currently has gene therapy clinical trials underway for choroideremia, which is in Phase 3, and X-linked RP (RPGR mutations), which is in Phase 2/3.