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The investigational RNA therapy is designed to address the underlying cause of Leber congenital amaurosis 10 due to a mutation in the CEP290 gene.
ProQR Therapeutics has announced it has completed patient enrollment in its Phase 2/3 Illuminate study of sepofarsen for the treatment of Leber Congenital Amaurosis 10 (LCA10) due to the p.Cys998X mutation in the CEP290 gene.
With enrollment completed, the company said that top-line results are expected in the first half of 2022.
According to the company, the Illuminate Phase 2/3 trial randomly assigned 36 patients aged eight years or older to receive either sepofarsen at the target registration dose, a low dose, or sham treatment. The primary endpoint of this study is mean change from baseline in Best Corrected Visual Acuity (BCVA) at Month 12, at the registration dose versus sham.
Sepofarsen, according to the company, is a first-in-class investigational RNA therapy designed to address the underlying cause of Leber congenital amaurosis 10 due to the p.Cys998X mutation (also known as the c.2991+1655A>G mutation) in the CEP290 gene.
This trial is intended to support application for marketing approval of sepofarsen for patients with LCA10 due to the p.Cys998X mutation in the CEP290 gene.
Aniz Girach, MD, chief medical officer of ProQR, said in a statement the company was pleased to have completed enrollment of the Illuminate trial of sepofarsen.
“This marks an important milestone for ProQR, as well as for the LCA10 and broader inherited retinal disease community,” Girach said in the statement. “In surpassing our enrollment target, we were able to accommodate the broad interest to participate in the trial. This speaks to the fact that there are currently no approved treatments for patients with LCA10.”
If approved, Girach noted that sepofarsen has the potential to be the first therapy to address this high unmet medical need for patients who would otherwise face blindness.
“We are grateful to those who have supported our efforts in bringing this trial forward, including our investigators, patients, and caregivers” Girach added in the statement. “We look forward to sharing the top-line results in the first half of 2022.”
The Illuminate study was initiated based on data from a Phase 1/2 study, which indicated that at Month 12, patients treated with sepofarsen had an improvement in visual acuity, as measured by BCVA. In a subset of patients (n = 6) who were treated at the target registration dose, the mean change from baseline for BCVA at Month 12 was -0.93 LogMAR, equivalent to approximately 9 lines improvement (or 45 letters) on the ETDRS chart. In the Phase 1/2 study, concordant improvements in measures of full-field stimulus testing (FST) and mobility were also observed, which are secondary endpoints in the Illuminate trial.
“LCA10 is a severe inherited retinal disease that leads to blindness, and for which there is currently no treatment,” said Katarina Stingl, MD, a professor at the University of Tuebingen Center for Rare Eye Diseases in Tübingen, Germany, “Completing enrollment of the Illuminate trial marks an important milestone for the LCA10 community, as well as the IRD community as a whole, as we seek to advance new treatments for this patient group.”
Laura Manfre, chair and co-founder of Sofia Sees Hope, a patient advocacy organization dedicated to those affected by LCA and other rare retinal diseases shared that as the parent of a child with an LCA diagnosis, she was told there was nothing that could be done and that her family needed to accept that their daughter would one day be blind.
“Now, in early clinical testing we have seen the potential for sepofarsen to make a significant difference for patients with LCA10 due to a mutation in the CEP290 gene,” she said. “We see hope for individuals living with this disease. We look forward to learning about the results of the Illuminate trial, and continuing to work with ProQR as they advance their pipeline of RNA therapies to potentially help children, adults, and families who are affected by blindness caused by LCA and other rare inherited retinal diseases.”
Sepofarsen has been granted orphan drug designation in the United States and the European Union and received fast-track designation and rare pediatric disease designation from the FDA as well as access to the PRIME scheme by the EMA.