Breaking Precision Medicine Treatment for Blindness Opens Possibility for Hospitals to Better Treat Congenital Diseases

Advances in precision medicine now offer potential treatment for congenital blindness; for hospital and health system CEOs assessing the special needs of their communities, the development emphasizes the benefits that precision medicine offers in treating congenital diseases

As precision medicine emerges as the modern approach to medical treatments, there are still questions about the scope of treatments that it will enhance. In the early decades of precision medicine, it was almost exclusively used in cancer treatments, based on the type of cancer and its underlying genetic factors.

As precision medicine continues to develop, many hospital leaders are unaware of the wide variety of applications for this treatment paradigm.

Precision Medicine for Congenital Blindness

The growing scope of treatments in which precision medicine is used, and the numerous clinical advantages that it offers, can enable hospitals to offer their patients cutting-edge care.

Highlighting the wide scope of applications of precision medicine is a new study out of the University of Pennsylvania Perelman School of Medicine’s Scheie Eye Institute. This study used precision medicine to target one of the 25 different genes that can cause congenital blindness in individuals who were blind due to dysfunction of that specific gene.

During the study, recently published in the journal iScience, researchers delivered working copies of the GUCY2D gene—the affected gene for these individuals—to the areas of the eyes in which this gene should be active. Over several months, researchers found that vision improved for each patient in the trial while no serious side effects were found to occur.

“We found sustained improvements in both day and night vision, even with a relatively low dose of the gene therapy,” said study lead author Samuel G. Jacobson, MD, PhD, in a Penn Medicine News brief. Jacobson is a professor of ophthalmology in the Perelman School of Medicine.

Cideciyan, Jacobson Studying GUCY2D Gene Therapy

Above, Artur V. Cideciyan, PhD (left), and Samuel G. Jacobson, MD, PhD (right), both of the University of Pennsylvania’s Perelman School of Medicine, have announced the initial results from the first-ever trial of a GUCY2D gene therapy for congenital blindness. (Photo: Penn Medicine News)

The findings of this research are expected to lead to a better understanding of how to approach gene therapy for congenital blindness and improve future treatments. “These initial results from the first-ever trial of a GUCY2D gene therapy are very encouraging and will inform our ongoing and future trials of this therapy,” stated co-author Artur V. Cideciyan, PhD, a research professor of ophthalmology in the Perelman School of Medicine as part of a university news release.

While the ability to treat specific forms of congenital blindness based on the unique gene causing it is certainly an interesting development, it has broader implications for hospitals that use, or are considering using, precision medicine as an integral part of their care delivery.

The use of precision medicine-based treatments for congenital diseases offers hope to a wide selection of patients that have not had many good treatment options available. “After a decade of gene therapy clinical trials, clinicians and scientists working in this nascent field of treatments of rare and incurable genetic retinal disorders have few successes to claim,” wrote the study’s authors, highlighting the needs in this field.

The finding that congenital blindness can be treated “bodes well, efficacy-wise, for future cohorts in the treatment of this severe childhood-onset photoreceptor disease,” according to the authors’ conclusion. Not only does this new research bode well for congenital blindness, but it also offers hope to others with congenital diseases.

Gene therapy holds promise. While gene therapy is not without risks, gene therapy-related research and development in the United States will continue to grow at a fast rate. Because products are advancing in clinical development, gene therapies must be watched for their potential in precision medicine initiatives.     

—Caleb Williams

Related Information:

Gene Therapy Shows Promise in Initial Trial for Patients with Childhood Blindness

Safety and Improved Efficacy Signals Following Gene Therapy in Childhood Blindness Caused by GUCY2D Mutations

FDA Continues Strong Support of Innovation in Development of Gene Therapy Products

Setting the Foundation for a Best-in-Class Precision Medicine Program: Four Steps to Guide Hospital and Health System Leaders