Eye On the Cure Research News

Apr 16, 2019

First Patient Receives AON Therapy for LCA10 in ProQR’s Phase 2/3 Clinical Trial

The treatment, formerly known as QR-110, is designed for people with the retinal disease Leber congenital amaurosis 10

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ProQR, an RNA therapy development company in the Netherlands, has dosed the first patient in its Phase 2/3 ILLUMINATE clinical trial for sepofarsen. The treatment, formerly known as QR-110, is designed for people with the retinal disease Leber congenital amaurosis 10 (LCA 10) caused by the mutation p.Cys998X in the gene CEP290.

The 24-month trial will initially enroll 30 adults and children. Participants will be randomly assigned to one of three groups: 10 patients receiving 40 mcg of sepofarsen, 10 receiving 80 mcgs of sepofarsen, or 10 receiving a sham procedure (placebo). The treatment is delivered by an intravitreal injection. The second dose will be administered three months after the first. Subsequent doses are administered every six months.

The trial will be conducted at sites in North America and Europe. The first patient in the study was dosed at the University of Tübingen in Germany.

In the Phase 1/2 trial for QR-110, 60 percent of patients had improvements in visual acuity and their ability to navigate a mobility course. ProQR began planning the Phase 2/3 trial after reporting the positive results for the Phase 1/2.

We are very pleased that ProQR’s treatment has performed encouragingly in patients and is progressing well through the clinical development process. Sepofarsen is an innovative therapy that holds promise for saving and restoring vision for people with LCA10, a formidable, early onset retinal disease.

Brian Mansfield, PhD

Sepofarsen is an antisense oligonucleotide (AON), which works like "genetic tape" to block the mutation. Unlike gene replacement therapies in which copies of whole genes are delivered to replace defective copies, AONs correct the mutation in the patient's messenger RNA, which conveys genetic information for protein production. AONs can be advantageous when large retinal-disease genes — such as CEP290 or USH2A — exceed the capacity of viral gene-replacement delivery systems.

“We are very pleased that ProQR’s treatment has performed encouragingly in patients and is progressing well through the clinical development process,” says Brian Mansfield, PhD, the Foundation’s executive vice president research and interim chief scientific officer. “Sepofarsen is an innovative therapy that holds promise for saving and restoring vision for people with LCA10, a formidable, early onset retinal disease.”

The Foundation Fighting Blindness is investing up to $7.5 million through its RD Fund to move ProQR’s QR-421a, an AON for people with Usher syndrome or retinitis pigmentosa caused by mutations in exon 13, into and through an early stage clinical trial, which began in early 2019. The RD Fund, a venture philanthropy fund, was established in 2018 to provide investments for promising retinal degenerative disease therapies that are in, or moving toward, early human studies.