Spark Therapeutics Receives $50 Million to Advance Gene Therapies

October 24, 2013

The Children’s Hospital of Philadelphia (CHOP) is investing $50 million in Spark Therapeutics, its newly formed spinoff company, to lead its landmark gene-therapy clinical trial for Leber congenital amaurosis (LCA, RPE65 mutations), an inherited form of blindness affecting children, and hemophilia B, an inherited blood-clotting disorder. The company also plans to advance additional gene therapies, including those for other inherited retinal diseases, in the future. Jean Bennett, M.D., Ph.D., a lead investigator for CHOP’s LCA gene-therapy clinical study, is a scientific co-founder of Spark Therapeutics.

“We are incredibly excited for the establishment of Spark Therapeutics to put CHOP’s LCA treatment, and potentially other retinal gene therapies, on the path to commercialization,” says Stephen Rose, Ph.D., the Foundation Fighting Blindness’ chief research officer. “The significant infusion of capital is a tremendous boost in getting vision-saving and vision-restoring treatments out to the people who so desperately need them.”

Launched in 2007, CHOP’s LCA gene-therapy clinical trial was one of the first of its kind for an inherited retinal disease. Earlier this year, the study advanced from Phase I to Phase III and expanded to the University of Iowa. Children as young as 3 years of age will have both eyes treated within a week in the 24-particpant, Phase III trial. The company plans to seek marketing approval for the treatment from the U.S. Food and Drug Administration at the conclusion of the study, which is expected in 2015.

Twelve virtually blind children and young adults with LCA were treated in the Phase I study. The therapy provided the most significant vision restoration to five school-age children (those under 17), all of whom were able to transfer from Braille to sighted classrooms after receiving the treatment. Corey Haas, who received the treatment at the age of 8, was subsequently able to put away his white cane and play a full season of Little League baseball.

In addition to supporting the Phase I trial, the Foundation began funding critical lab research in the mid-1990s — including the linking of the RPE65 gene to LCA and proof-of-concept for the gene therapy in a canine RPE65 model — that made the CHOP clinical study possible.

The Foundation currently funds CHOP for the development of retinal gene therapies for other forms of LCA (Lebercillin and CEP290 mutations) and Stargardt disease, as well as stem cell and retinal imaging projects to better understand retinal degeneration and how to treat it.

Visit the Foundation’s Eye on the Cure blog for information on CHOP’s and other retinal gene therapy clinical studies as well as a discussion of how gene therapy works.