The US Food and Drug Administration (FDA) could approve a new gene therapy procedure for the eye disorder Leber congenital amaurosis (LCA) at the start of 2018.
The name of the drug in question is Luxturna. Scientists at the American gene therapy company Spark Therapeutics developed this new one-off treatment strategy.
Members of the Cellular, Tissue, and Gene Therapies Advisory Committee at the FDA recommended that Luxturna be approved as soon as possible. The FDA now has until January 12th, 2018, to make a decision.
Eye doctors estimate that there are around 20 genetic strains of LCA. All cases of LCA are inherited and can result in blindness without proper treatment.
The LCA gene mutation Luxturna addresses is called the RPE65 gene. Patients who go in for this treatment receive a one-time injection into their retina of normal RPE65 genes.
Spark Therapeutics touts that Luxturna is the first gene therapy of its kind to have ever successfully passed a phase three randomized and controlled trial.
For its clinical trial, Spark Therapeutics examined how its therapy worked on 41 patients with different degrees of LCA. These patients ranged in age from four to 44 years old.
Researchers examined patients' eyes using bilateral multi-luminance mobility tests and examined their full-field light sensitivity thresholds. They found that patients given Luxturna made a "statistically significant" difference in LCA patients' eyes. Results from this clinical trial suggest that Luxturna continues to be effective for at least four years.
LCA is a rare genetic eye disorder that negatively impacts the retina. The most common warning sign of LCA is called the Franceschetti's oculo-digital sign. Basically, the Franceschetti sign refers to any kind of intense rubbing or poking of the eyes with the knuckles or fingers. LCA is most commonly diagnosed in infancy.
In case you were wondering, LCA was named after the 19th century German optician Theodor Karl Gustav von Leber. He discovered what we now know as LCA in 1869.
Current estimates suggest that around one in every 40,000 children contracts LCA. The only successful treatment options available today are gene therapy procedures.
Founded in 2013, Spark Therapeutics is headquartered on Market Street in Philadelphia. In addition to working on LCA, Spark Therapeutics is hard at work on hemophilia gene therapies.
Spark Therapeutics works with dozens of charity and advocacy groups to better understand the nature of retinal disorders. A few organizations Spark Therapeutics is proud to partner with include the American Council of the Blind, Fundación Argentina de Retinosis Pigmentaria, and the Curing Retinal Blindness Foundation.