‘I Can See It!’ — From Idea to Astonishing Result

Published on in Children's View

Girl in windowNearly 20 years ago, Katherine High, MD, then Director of Children’s Hospital of Philadelphia’s Center for Cellular and Molecular Therapeutics, had an ambitious idea. Today, that idea has become a reality that’s utterly transforming the lives of children like Hannah.

The goal: treat a rare blindness in children using gene therapy. Success was far from guaranteed, but CHOP believed in and supported High — just one expression of CHOP’s relentless drive for impact that has put the hospital at the forefront of medical discovery for decades. With philanthropy and hospital investment, the search for the cure began.

The work required resilience. It required perseverance. And after a decade of research, High proved the potential of gene therapy to treat an inherited condition that severely limits a child’s vision and eventually causes complete blindness. In Hannah’s case, her vision problems became apparent when she was only a few months old.

The exciting promise prompted a bold move by CHOP: In 2013, the hospital helped to create a company called Spark Therapeutics in order to dramatically shrink the time needed to bring life-changing treatments to patients and attract the funding and talent to commercialize and deliver new therapies. In little over a year, Spark tested its blindness therapy in clinical trials that showed the treatment’s dramatic potential.

A mere four years after its creation, Spark produced the first U.S. Food and Drug Administration-approved gene therapy for an inherited form of blindness.

Changing Hannah’s future

At the time, Hannah (pictured above) had been navigating a world where she could see very little and was preparing for a future without sight. She had regular visits with the CHOP Ophthalmology team. After FDA approval, she became the first patient at CHOP to receive the new therapy, called LUXTURNA™.

The result? The summer before she started second grade, Hannah saw a star for the first time. “I took her outside and said, ‘Hannah, can you see that little white light in the sky? That’s a star,’” says her mother, Amy. “And she said, ‘I can see it!’ She was so happy.”

Those breakthrough moments kept happening as the world revealed itself to Hannah, one star, one flower, one sunset at a time.

Recently, Spark entered into a merger agreement with Swiss biotech company Roche Holding AG for $4.8 billion, which potentially could transform the field of gene therapy. While a sale would result in a significant return on investment for CHOP, the hospital’s ability to support its mission into the future depends on funding from diversified revenue sources — the most important of which is private philanthropy.

The advent of Spark is a testament to the hospital’s culture of innovation. Luxturna alone has helped numerous patients see the stars in the night sky, here at CHOP and around the globe. At CHOP, the successes of tomorrow are being fostered today — and philanthropy makes them possible.