Experimental Gene Editing Treatment Improves Vision in Patients with Inherited Blindness
Innovative CRISPR Therapy Provides Hope for Patients
CNN —
For her entire life, college student Olivia Cook had only a small degree of central vision. It was as if she was watching the world through a straw hole, and in dimly lit places, she could not make out people’s faces, only their silhouettes.
But after receiving an experimental gene-editing treatment to one of her eyes, she now can see things she never saw before.
Cook was born with an inherited retinal disorder that causes blindness, a rare type of eye disorder historically called Leber congenital amaurosis or LCA. A few years ago, she decided to participate in a clinical trial that involved using the gene-editing tool CRISPR to correct the form of inherited blindness that she has.
“My life has mostly changed in terms of being hopeful that there is going to be more science and findings in the future,” said Cook, 22, who is currently studying marketing and product development at Missouri State University in Springfield. She received the experimental gene-editing treatment through a surgery performed on her left eye.
“Now, post-surgery and post-recovery, I am able to see in dimmer lighting with my left eye,” Cook said.
Positive Results in Clinical Trial
A treatment that used CRISPR was found to be safe and efficacious in improving vision among a small sample of patients with inherited blindness in the Phase 1/2 clinical trial that Cook participated in. Inherited retinal degenerations are a leading cause of blindness around the world.
Among a total of 14 volunteers, including Cook, the gene-editing tool was found to be associated with a “meaningful improvement” in vision for most patients around three months later, and it was not directly tied to any serious side effects, according to the trial results published in the New England Journal of Medicine.
Potential for Transforming Gene Therapy
The CRISPR-based therapy could be a breakthrough for patients with inherited retinal degenerations caused by mutations in the CEP290 gene. Previously, there was no approved treatment for this type of inherited retinal disorder, and patients would experience a worsening of visual impairment over time.
First In-human Use of CRISPR
“This study is the first time that CRISPR has been used in the eyes of living people,” said Dr. Eric Pierce, the study’s first author and director of the Ocular Genomics Institute at Mass Eye and Ear and Harvard Medical School.
Potential for Expanding CRISPR Applications
The successful results of the Phase 1/2 trial provide proof of concept for CRISPR-Cas9 gene editing as a safe and effective therapy for inherited retinal disorders. Researchers are hopeful that this groundbreaking therapy could be applied to other genetic forms of inherited blindness and genetic diseases in general.
Promising Impact on Patients’ Lives
The patients in the trial experienced various improvements in their vision, including the ability to see facial features more clearly, distinguish colors, and perceive details in low-light conditions. While complete vision restoration was not achieved, the treatment provided substantial enhancements in the quality of life for patients, granting them access to a range of visual experiences they had never before encountered.
Further Research and FDA Approval
The success of the Phase 1/2 trial has paved the way for progressing to the Phase 3 trial to gather larger scale clinical data. Researchers are working towards gaining FDA approval for the therapy, and they are hopeful that this publication will generate interest in the biotech and pharma communities to support further research.
Long-term Safety and Monitoring
While CRISPR therapy has shown promising results, the potential long-term effects of gene editing are still not fully understood. As the treatment is a lifelong presence in the patients’ genomes, ongoing research is crucial to monitor any unforeseen risks that could arise after a greater duration of treatment.
The results of this experimental gene editing treatment have shed light on the importance of quality of life for patients. While not a cure, this therapy has shown significant improvements in vision, providing hope for patients with inherited retinal disorders.
Looking Ahead
The success of this proof-of-concept study has opened the door for future gene therapies to treat various eye disorders. With further research and refinement, CRISPR technology could potentially offer life-changing treatments for a wide range of genetic conditions.
