Foundation Fighting Blindness
WELCOME to a new issue of the Foundation’s In
ocus newsletter. In Focus keeps FFB members up to
ate on the many significant advances being made
n the search for treatments and cures for retinal
degenerative diseases. I’m extremely pleased to be able
to bring this information to you for two reasons. First,
it’s a strong demonstration of the Foundation’s value
therapy for people with RP. The trial, led by Henry
Klassen, MD, PhD, is taking place at the University of
California, Irvine, and at Retina-Vitreous Associates
Medical Group in Los Angeles.
The treatment is an intravitreal injection of retinal
progenitor cells (RPCs). RPCs are stem cells that have
partially developed into retinal cells. The goal of the
intervention is to preserve and potentially rescue the
patient’s existing photoreceptor cells, thereby saving and
possibly restoring vision. To date, 28 patients have been
enrolled in the study, the first phase of which focused
on safety. This spring, the study moved into Phase II,
focusing on measuring efficacy.
Funding from the Foundation Fighting Blindness
supported early laboratory research on stem-cell therapies
that helped pave the way for the jCyte trial.
Spark Therapeutics passed a highly significant
milestone in early May when it completed and
announced that it would be submitting its BLA
(application to the FDA) for marketing approval for its
gene-based treatment for mutations in the RPE65 gene
that causes certain forms of Leber congenital amaurosis
and RP. If approved, this therapy is likely to be the first
FDA-approved gene therapy for an eye disease or any
AGTC is currently conducting two clinical studies to
evaluate the safety and efficacy of two investigational gene
therapies — one for patients with X-linked retinoschisis
and the second for patients with achromatopsia caused by
mutations in the CNGB3 gene.
ReNeuron, a stem-cell development company based
in the United Kingdom, is also developing an RPC
therapy to rebuild photoreceptors. The company has
reported that six patients with RP have been treated in a
Phase I/II clinical trial at the Massachusetts Eye and Ear
Infirmary in Boston, a first U.S.- based trial for the firm.
RetroSense Therapeutics, which received some early
research support from the Foundation and was recently
acquired by the global pharmaceutical company Allergan,
reported that three participants have received subretinal
injections of its potential optogenetic therapy known as
RST-01 in a Phase I/II clinical trial.
FFB’s Clinical Research Institute to Conduct
Four-Year Study of USH2A Mutations
Mutations in the USH2A gene are the most common
cause of Usher syndrome type 2, which causes combined
vision and hearing loss and autosomal recessive retinitis
pigmentosa. A major challenge in providing prognoses
for USH2A patients — and for designing clinical trials for
potential therapies — is the wide variability in symptoms,
severity, and progression.
To gain a better understanding of how USH2A
mutations manifest themselves into vision loss, the
Foundation’s Clinical Research Institute (FFB-CRI) has
launched a four-year natural history study of 120 people
with USH2A mutations. The study, known as RUSH2A
— the “R” denoting rate of progression — will take place
at about 20 clinical sites worldwide.
The natural history study is the first project of the
FFB Clinical Research Institute’s Clinical Consortium.
The Consortium is a network of centers of excellence
that will participate in clinical studies to help accelerate
the development of treatments for inherited retinal
diseases by providing researchers and clinicians
with robust long-term data about disease onset and
progression, data that will allow for more precise design
of treatment measurements within clinical trials.