A Children Hospital of Philadelphia gene therapy spinout is taking over development of a Phase 3 gene therapy program to treat inherited blindness by counteracting retinal degeneration. It’s one of the most common causes of blindness in children.
Spark Therapeutics is advancing the work of CHOP’s Center for Cellular and Molecular Therapeutics. The center was set up in 2004 as a center for gene therapy translational research and manufacturing. CHOP is giving it $50 million to advance its genetic therapies.
Inherited blindness is caused by mutations in the RPE65 gene. There is currently no drug or therapeutic treatment for this form of inherited retinal degeneration, according to the hospital statement. It ultimately causes irreversible blindness.
The treatment has produced some encouraging results. A clinical study of 12 patients with RPE65-related blindness demonstrated notable improvement in visual function. In some cases, children who were profoundly blind were able to recognize faces and move independently, according to the statement. All school-age patients enrolled in the trial were able to transfer from Braille classrooms to sighted classrooms. The next step is a Phase 3 open-label, randomized, controlled study that will expand on the study.
The gene mutation in one of 14 genes that cause Leber’s congenital amaurosis. It disrupts development of the retina, causing people with the disease to have severe vision deficits from birth that progress slowly over time to total blindness.
Many of the center’s leaders will take on management roles in Spark or work with the company as scientific advisers. Among those advisers is Dr. Katherine A. High, a gene therapy pioneer who has worked as the director of the center from the start.
The group is also developing a gene therapy for hemophilia B. The goal is to eliminate or reduce the need for regular infusions of clotting factor. It might even be able to help hemophilia B patients with inhibiting antibodies.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
The company is also advancing toward the clinic with gene therapy programs to address neurodegenerative diseases and additional hematologic disorders and other forms of inherited blindness.
The company was co-founded by CEO Jeffrey D. Marrazzo, who has served as an entrepreneurial consultant to the hospital for the past three years. He said: “The creation of Spark is the culmination of a decade-long commitment by CHOP and our founding team to drive the field of gene therapy forward during a time when many in the industry had moved away.”
Last month, CHOP formed a partnership with Osage University Partners in a move to develop more partnership opportunities. One spin-off company CHOP has produced is Vascular Magnetics to treat peripheral artery disease. A rotovirus vaccine called RotaTeq produced through joint research between CHOP and Wistar Institute is now sold by Merck.
