Rare Disease Report

Genzyme Providing $900K Towards Gene Therapy Research for Childhood Blindness

SEPTEMBER 23, 2014
James Radke

Genzyme is entering the fields of ophthalmology and gene therapy.  Today, the company announced they are providing $900,000 in funding to Dr Shannon Boye, assistant professor of ophthalmology at the University of Florida, to investigate a possible gene therapy for Leber congenital amaurosis type 1 (LCA-1), a disease that causes childhood blindness.
LCA-1 is a genetic disorder that primarily affects the retina. Most people with LCA-1 have severe visual impairment beginning in infancy. There as many as 14 gene mutations that can lead to LCA-1,  with the most common mutations occurring on the CEP290, CRB1, GUCY2D, and RPE65 genes.
Dr Boye’s research will focus on guanylate cyclase (GUCY2D). The GUCY2D gene normally makes GC1, a protein expressed in photoreceptors.  Foundation Fighting Blindness also provides support for Dr Boye’s research.

Dr Boye’s lab has demonstrated the ability to restore retinal function and visually-guided behavior and preserve retinal structure in several animal models of LCA-1.  They are hoping to develop a clinical-grade adeno associated viral (AAV) vector with which to perform safety studies and eventually apply it to patients. This gene therapy will involve inserting a healthy copy of the GUCY2D gene into an AAV vector which will then be injected into the retina with the goal of treating the disease with a single treatment.

Genzyme has the option to in-license the potential treatment before it enters clinical trials.

Abraham Scaria, Senior Scientific Director and Project Leader for the LCA-1 program at Genzyme said:

 “We are excited by the prospect of what this treatment would mean for children diagnosed with this disease.”

Also contributing to the studies will be treating physicians from the University of Pennsylvania. Rich Gregory, Ph.D., Head of the Sanofi Genzyme R&D Center said:

“We are proud to partner with Dr. Shannon Boye and her team at the University of Florida, who are leading experts in the field of ocular gene therapy, as well as our clinical colleagues from the University of Pennsylvania, who are sharing important insights about LCA-1 patients’ needs.”

Image of a genzyme building courtesy wikimedia commons.

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