04.14.21

ProQR Announces Publication in Nature Medicine for Sepofarsen in Leber Congenital Amaurosis 10

Source: ProQR Therapeutics

ProQR Therapeutics announced the publication in the scientific journal Nature Medicine titled “Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report” describing durable vision improvement after treatment with sepofarsen in a clinical trial for CEP290 mediated Leber congenital amaurosis 10 (LCA10).

“We are excited to share these findings with the scientific and medical community,” lead author Professor Artur V. Cideciyan, PhD, one of the co-investigators at the Scheie Eye Institute of the University of Pennsylvania, said in a company news release. “Treatment with sepofarsen resulted in substantial, concordant and enduring improvement in more than a dozen different subjective and objective measurements of visual function as well as retinal structure.”

“We are highly encouraged by the data showing sepofarsen had such a beneficial effect on this child’s vision,” said Aniz Girach, MD, Chief Medical Officer of ProQR, “The visual field improvements observed indicate that RNA therapy could potentially be used to treat early stage disease, which is enabled by the broad distribution of intravitreal RNA therapy throughout the retina.”

Published results highlight a patient who is homozygous for the c.2991+1655A>G mutation in CEP290and was part of a larger cohort in the phase 1/2 clinical trial. The patient was studied for 15 months after intravitreal treatment with sepofarsen. Concordant measures of visual function and retinal structure including visual acuity, light sensitivity and visual fields, reached a substantial efficacy peak near three months after injection and remained better than baseline at 15 months.

Leber congenital amaurosis (LCA) is the most common cause of blindness due to genetic disease in children. It consists of a group of diseases of which LCA10 is the most frequent and one of the most severe forms. LCA10 is caused by mutations in the CEP290 gene, of which the c.2991+1655A>G mutation has the highest prevalence. LCA10 leads to early loss of vision causing most people to lose their sight in the first few years of life. To date, there are no treatments approved that treat the underlying cause of the disease. Approximately 2,000 people in the Western world have LCA10 because of this mutation.

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