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Samuel G. Jacobson, MD, PhD
Artur V. Cideciyan, PhD
RNA therapy
reverses blindness in patient after one dose In a recent publication in Nature Medicine, Scheie researchers showed that a patient with a genetic form of childhood blindness gained vision that lasted for more than one year after receiving a single injection of an experimental RNA therapy. This study was led by Artur V. Cideciyan, PhD and Samuel G. Jacobson, MD, PhD, Professors of Ophthalmology and co-Directors of the Center for Hereditary Retinal Degenerations. The patient was a participant of a larger international clinical trial for patients with Leber congenital amaurosis due to a CEP290 mutation, which is a commonly implicated genetic cause for this disease. Patients with this mutation typically have severe visual impairment that begins in infancy. Patients in the clinical trial received an intravitreal injection of an antisense oligonucleotide called sepofarsen. This short RNA molecule is designed to correct the commonly
By Rebecca Salowe
occurring CEP290 mutation. A prior study, also led by Drs. Cideciyan and Jacobson and published in Nature Medicine, showed that repeated injections of sepofarsen every three months resulted in consistent vision gains in 10 patients. The 11th patient—featured in this most recent publication—received only one injection of sepofarsen. The patient decided to forgo the quarterly maintenance doses to avoid potential adverse effects, but allowed for continued monitoring. “Sepofarsen half-life within the non-foveal retina was previously estimated to be two months based on animal studies,” said Dr. Cideciyan. “Our work showed that this second-generation antisense oligonucleotide remains active in human foveal cone photoreceptors for more than 15 months and continues to provide improved vision throughout this period.”
