The LCA5 gene therapy trial is an incredible step of progress made possible through the partnership between Opus Genetics and the Foundation Fighting Blindness (FFB).
The Center for Hereditary Retinal Degenerations’ co-directors Artur Cideciyan, PhD, and Tomas Aleman, MD, are at the forefront of a pioneering gene therapy trial targeting a particularly severe form of Leber congenital amaurosis (LCA5). This groundbreaking effort is the result of a collaborative partnership between Opus Genetics and the Foundation Fighting Blindness (FFB), with the RD Fund—FFB's venture philanthropy arm—fueling the initiative with approximately $1 million for the initial phases.
Launched with a significant $19 million seed funding from the RD Fund in 2021, Opus Genetics has been instrumental in advancing gene therapies for inherited retinal diseases. This collaboration also builds on prior investments in preclinical studies for BEST1 and RHO gene therapies. Central to the trial's strategy is OPGx-001, a gene therapy utilizing a human-engineered adeno-associated virus (AAV) to deliver healthy LCA5 genes directly to the retina. This one-time injection aims to rectify the underlying genetic fault causing vision loss—potentially offering a long-term solution for patients.
Preliminary data from this clinical trial were presented by Dr. Tomas Aleman at the American Academy of Ophthalmology Annual Meeting in 2023. The LCA5 gene therapy trial arrives after years of foundational research by Drs. Tomas Aleman, Artur Cideciyan, Jean Bennett, Albert Maguire, and Katherine Uyhazi, along with the wider Scheie community.
Beyond its scientific achievements, this trial also represents a unique funding model—blending philanthropic support with private investment. The trial addresses some of the most debilitating forms of photoreceptor degeneration and ciliopathy—marking a significant leap forward in the treatment of retinal diseases and transformative therapies.
In another monumental step for the Center for Hereditary Retinal Degenerations, the groundbreaking gene-editing to target CEP290-associated retinal degeneration.
The groundbreaking EDIT-101 trial utilized CRISPR-Cas9 technology to target CEP290-associated retinal degeneration. This innovative gene-editing therapy aims to correct a specific pathogenic variant within intron 26 of the CEP290 gene, potentially restoring vision.
Published in the New England Journal of Medicine, this phase I-II, open-label trial demonstrated positive results—notably improving visual acuity, retinal sensitivity, and overall quality of life among participants, including children.
Tomas S. Aleman, MD, site principal investigator and study co-author, shared the following on the trial’s impact with the Children’s Hospital of Philadelphia:
“Our patients are the first congenitally blind children to be treated with gene-editing, which significantly improved their daytime vision. Our hope is that the study will pave the road for treatments of younger children with similar conditions and further improvements in vision. This trial represents a landmark in the treatment of genetic diseases, in specific, genetic blindness, by offering an important alternative treatment, when traditional forms of gene therapy, such as gene augmentation, are not an option.”
by Maressa Park