February, 11 2022 • Articles

ProQR Announces Top-Line Results from Phase 2/3 Illuminate Trial of Sepofarsen in CEP290-mediated LCA10

ProQR has published the top-line results from the Phase 2/3 Illuminate Trial of sepofarsen in CEP290-mediated Leber congenital amaurosis 10 (LCA10).

In top-line analyses, Illuminate did not meet its primary endpoint of Best Corrected Visual Acuity (BCVA) or you might know it as the eye chart, as well as secondary endpoints. No benefit was observed in either sepofarsen treatment arm versus the sham treated control arm.


Illuminate is the name of a clinical study which aimed to explore whether the investigational RNA therapy sepofarsen was effective and safe for individuals with CEP290-mediated LCA10.

The trial was launched in April 2019.

“Given the results observed in earlier studies of sepofarsen, the Illuminate trial results are unexpected and disappointing, especially for people living with LCA10,” said Daniel A. de Boer, Founder and CEO of ProQR Therapeutics. “ProQR was founded with the goal of developing RNA therapies for patients with high unmet medical need, and we will continue to advance our robust pipeline of therapies for genetic eye disease. We are deeply grateful to all of the participants, their supporters, and investigators who participated in the Illuminate study.”

“LCA10 is a devastating, very difficult-to-treat retinal disease resulting in blindness, for which there are no therapies,” said Dr. Bart Leroy, Head of the Ophthalmology Department at Ghent University Hospital and Professor of Ophthalmology and Ophthalmic Genetics at Ghent University, Ghent, Belgium and Attending Physician for Ophthalmic Genetics and Retinal Degenerations at The Children's Hospital of Philadelphia. “We will continue to work with ProQR to understand the data as they work to advance therapies for inherited retinal diseases.”

“This was not the outcome we had hoped for and we share in the disappointment many are feeling in the community,” said Benjamin R. Yerxa, Chief Executive Officer at the Foundation Fighting Blindness. “We will continue to work alongside ProQR to learn more from the ongoing analyses and as they work to advance RNA therapies to potentially help children, adults, and families who are affected by rare genetic eye diseases.”

How was the study set up?

Illuminate, was a randomized, sham-controlled trial, enrolled 36 participants aged eight years or older with genetically confirmed Leber congenital amaurosis 10 due to the c.2991+1655A>G(p.Cys998X) mutation in the CEP290 gene.

The study took part at 14 study sites in nine countries.

Participants were randomized to three equal groups of:

• the target registration dose sepofarsen (160 μg/80 μg loading dose/maintenance doses),
• a low dose of sepofarsen for masking (80 μg/40 μg loading dose/maintenance doses),
• or sham procedure.

With sepofarsen administered via intravitreal injection (IVT) and the sham procedure mimicking an injection with no medicine or injection given.

Clinical trials are used by researchers to find out whether new medicines are effective and safe.

The Illuminate trial aimed to find out whether sepofarsen was effective at improving vision, safe and well-tolerated.

We will now take some time as a company to analyze the data further.

ProQR thanks the community

The ProQR team would like to thank the study participants, their supporters, the investigators, and their staff for the support in the development in this trial. ProQR remains committed to making a significant and positive impact on the lives of those affected by genetic eye conditions.

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