While finding treatments and cures for inherited retinal diseases is a decades-long pursuit, the year-over-year progress, including that made this year, is extremely
encouraging. Specifically, the Foundation’s investments
in research and technology and its pursuit of biotech and
pharmaceutical partners are achieving remarkable success in the
discovery and testing of a wide range of promising therapies to
prevent, treat, and cure blindness caused by retinal degeneration.
“Due to the Foundation Fighting Blindness’ unwavering support
of research over its 46-year history, retinal degenerative disease
research is leading the medical field in advancing treatments
for inherited diseases into the clinic. As a result, the prospect for
many treatments for inherited retinal degeneration has never
been more promising. FFB support has allowed these ground-breaking advances to be achieved,” said Stephen Rose, PhD, FFB
Chief Research Officer.
Nowhere is this accelerating progress more evident than in
human studies — clinical trials — for promising vision-saving
therapies. As the “era of clinical trials” continues, FFB’s unique
role in building bridges between early lab and translational
research and the considerable financial resources that later-stage human clinical trials require — resources that can only be
provided by the pharmaceutical industry — is particularly evident.
The following are examples of the impressive research progress
that has been made over the past year. The Foundation Fighting
Blindness played a critical role in the advancement of all these
Pursuing FDA Approval for a Gene Therapy
Thanks to vision restoration in a clinical trial for children and
young adults who were virtually blind, Spark Therapeutics, a
Philadelphia company which has its roots in FFB funding, has
sought U.S. Food and Drug Administration (FDA) approval for its
RPE65 gene-replacement therapy. The treatment helps restore
vision by delivering copies of a light-sensitive gene to surviving
cells in the retina. If approved by the FDA, it will be the first
approved gene therapy for the eye and the first for any inherited
condition in the United States!
Big Pharma Investment in Promising Retinal Disease
In 2015, RetroSense Therapeutics received FDA authorization
to launch a clinical trial of its optogenetic gene therapy. By
harnessing surviving cells in the retina, the emerging treatment
holds promise for restoring some vision to people who are
completely blind, regardless of the gene mutation causing their
In 2016, the company began treating the trial’s first patients.
No inflammation or ocular adverse events were seen in any of
the trial participants, and biological activity within the eye was
confirmed. Thanks to the potential of this therapeutic approach,
the international pharmaceutical company Allergan purchased
RetroSense for $60 million.
In 2016, Spark Therapeutics, the Philadelphia-based, gene-therapy company responsible for developing a treatment
targeting retinal diseases caused by mutations in the RPE65
gene described above, purchased Genable Technologies, Ltd., an
Irish bio-pharmaceutical company developing a gene therapy,
RhoNova™, for the treatment of autosomal dominant retinitis
In 2016, Biogen and AGTC established a milestone-based
collaborative development and commercialization program
for XLRS and XLRP gene therapies exceeding $1 billion in total
funding. Biogen will be granted a license to the XLRS and XLRP
Charting Significant Research Progress!