Encouraging advances in therapies for Leber congenital amaurosis

Editas Medicine CRISPR therapy for CEP290 gene

Editas Medicine, a company specialising in the development of gene editing therapies, has announced the recruitment of paediatric patients to the Brilliance trial. This phase 1/2 clinical trial began last year and is based on the CRISPR gene editing methodology to excise the intron mutation c.2991+1655A>G, which produces an aberrant messenger RNAs (see news on our blog).

The Independent Data Monitoring Committee (IDMC) has authorised the start of the study with two planned paediatric cohorts of patients, based on the analysis of positive safety data from the adult low-dose and adult mid-dose cohorts.

“We have a long history at Mass. Eye and Ear of helping develop life-changing medicines, and we are pleased to be working at the forefront of research on this novel therapy. We are eager to begin studying EDIT-101 in paediatric patients where we believe it can have great impact and the potential to restore vision,” said Eric A. Pierce, director of the Ocular Genomics Institute at Massachusetts Eye and Ear in Boston, and Principal Investigator of the Brilliance trial.

In addition, Editas Medicine has also begun enrolling adult patients for the highest dose group, and plans to release the first clinical results of the Brilliance trial next September.

Atsena Therapeutics GUCY2D gene therapy

Recently, Atsena Therapeutics has published the first results of an ongoing phase 1/2 clinical trial, in which the safety and efficacy of the first gene therapy for LCA patients with mutations in GUCY2D. This gene is responsible for 20% of LCA cases.

Atsena has presented results of the first three adult patients with advanced vision loss, who received the lowest dose of the treatment. After 9 months since administration, neither toxicity nor serious adverse effects associated with the therapy were observed. In two of the patients, there was an improvement in rod function and visual acuity remained stable. One of them also experienced an improvement in pupillary responses and, the third patient, an improvement in visual acuity.

Atsena will continue to study GUCY2D gene therapy in patients with better vision who will receive higher doses of the therapy.

Image: CRISPR-Cas9 (Ernesto del Aguila, National Human Genome Research Institute, NIH) via Wikimedia Commons.