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“Due to the success of earlier laboratory research,
including preclinical studies supported by FFB, gene
therapy startups are attracting hundreds of thousands
of dollars of venture-capital investments and initiating
human studies.”
Dr. Jacque Duncan, chair of the Foundation’s Scientific
Advisory Board, from her article “Crossing the Valley
of Death to Find Cures for Blindness” in Retina Today
The Foundation’s Full-Court
Researchers and biopharmaceutical com- panies around the world are attacking Stargardt disease on all fronts, with the
Foundation Fighting Blindness (FFB) playing a
lead role in the overall effort. Clinical trials for
emerging stem-cell, gene therapy and drug treatments are now underway, and a large financial
investment by FFB is helping advance a pharmaceutical approach toward a human study. In addition, the Foundation’s natural history study—to
monitor progression of the disease and vision
loss—will help researchers identify additional
clinical-trial participants and outcome measures
to more quickly advance promising therapies.
“There isn’t a silver bullet for everyone with
Stargardt disease, so it’s critical that we find
answers for affected individuals, regardless of
their gene mutation or extent of vision loss,” says
Stephen Rose, Ph.D., chief research officer at the
Foundation. “While there’s still much more work
to do, we’re excited by our progress in getting
potential therapies into and through human
studies.”
Stargardt disease is the leading cause of
juvenile-onset macular degeneration, causing
blinding central vision loss in 30,000 Americans
and hundreds of thousands more worldwide. It’s
usually diagnosed in children or young adults,
and is caused by the accumulation of toxic waste
products in a supportive layer of cells known as
the retinal pigment epithelium, or RPE. The loss
of RPE ultimately leads to loss of photoreceptors,
the retinal cells that make vision possible.
Gene Therapy: Replacing the Bad Gene
with a Good Gene
The international pharmaceutical company
Sanofi is leading development of a gene therapy
for Stargardt disease. The treatment involves
replacing defective copies of the gene ABCA4—
the gene most often associated with Stargardt
disease—with normal copies. The goal of the
treatment is to halt vision loss. The Foundation
invested several million dollars in research to
understand the disease, develop the treatment in
the lab and launch the clinical trial.
A Powerful Drug to Preserve Vision
The Foundation is partnering with Vision Medicines to develop a drug to halt the accumulation
of toxic waste products, which are the hallmark
of Stargardt disease and lead to vision loss. The
collaboration includes an investment of up to
$7.5 million by the Foundation. Vision Medicines hopes to launch a human study of the drug
by the end of 2016.
