A race against the clock for Leber congenital amaurosis gene therapy

ProQR Sepofarsen therapy

On July 29, the Dutch company ProQR announced that the European Medicines Agency (EMA) has granted access to the Agency’s priority medicine program (PRIME) to its Sepofarsen therapy (QR-110), designed for the treatment of Leber congenital amaurosis (LCA10), a childhood blinding disorder, caused by the c.2991+1655A>G (p.Cys998 *) mutation in the CEP290 gene.

The EMA PRIME program offers support to medicine developers, with faster dialogue and interaction, to expedite the review and approval process of the therapy so that it can reach patients without delay.

To grant access to the program, the new therapy must demonstrate its benefit with data from preclinical and clinical studies that have already been carried out. Sepofarsen (QR-110) is the first ProQR therapy that has been granted access to the PRIME priority drug program and the first ophthalmological therapy that receives this designation. Recently, it was granted fast-track access for review and approval by the U.S. Food and Drug Administration (FDA).

Sepofarsen (QR-110) is an antisense oligonucleotide (AON) that is administered by intravitreal injection and that specifically counteracts the effect of the c.2991+1655A> G mutation in the messenger RNA (mRNA) of the CEP290 gene that causes aberrant mRNA splicing. The goal of therapy is to slow the progression of the disease or reverse some of the more severe alterations. ProQR has presented positive preliminary results in a phase I/II clinical trial in which 60% of the participants showed vision improvements. Read our blog post from 10/31/2018.


Editas Medecine – Allergan AGN-151587 Therapy

Also on July, the companies Editas Medicine and Allergan have announced the beginning of patient enrolment for the phase I/II clinical trial (named Brilliance) of AGN-151587 (EDIT-101) therapy. AGN-151587 is also specifically directed against the same mutation as Sepofarsen (QR-110): the intronic mutation c.2991+1655A> G in the CEP290 gene that causes Leber congenital amaurosis. Unlike Sepofarsen, AGN-151587 is the first in vivo therapy based on the gene editing approach with the CRISPR technology. It is focused to simply delete the mutation of the gene without introducing novel changes in the photoreceptor cells of the retina.

The Brilliance trial will analyse the safety, tolerability and efficacy of AGN-151587 in about 18 patients, both adult and paediatric, with varying degrees of vision impairment. A single dose of the drug is administered via subretinal injection in one eye. Read our blog post from 12/03/2018.

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