First Patient Receives Emerging CRISPR Therapy in Clinical Trial for LCA 10

Clinical researchers at Casey Eye Institute, Oregon Health & Science University (OHSU), have dosed the first patient with an experimental CRISPR/Cas9 therapy in the BRILLIANCE Phase 1/2 clinical trial for people with Leber congenital amaurosis 10 (LCA 10). The emerging treatment targets a specific mutation (c.2991+1655A>G in Intron 26) of the gene CEP290.

Sponsored by Allergan, a global pharmaceutical company, and Editas, a gene-editing therapy company, the trial will be assessing safety and efficacy of their emerging gene-editing therapy in 18 patients at four sites in the US.

Known as EDIT-101, the CRISPR/Cas9 gene-editing technology is designed to locate and remove the mutation in LCA10. The treatment works like a pair of molecular scissors to cut out the mutation. The treatment is delivered to photoreceptors by a subretinal injection.

Gene editing is different from gene (replacement) therapy. In gene therapy, copies of an entirely new gene are delivered to the retina to replace the defective copies. In CRISPR/Cas9 gene editing, only the mutated region of the gene is corrected.

“This is an exciting milestone for using CRISPR/Cas9 gene-editing to potentially treat inherited retinal diseases,” says Brian Mansfield, PhD, executive vice president and interim chief scientific officer at the Foundation. “Gene-editing is an attractive approach for addressing large genes which exceed the cargo capacity of commonly used viral delivery systems such as adeno-associated viruses or AAVs.”

The Foundation Fighting Blindness currently funds the following CRISPR/Cas9 lab research projects:

• University of Wisconsin-Madison (LCA caused by a mutation in KCNJ13)
• Mass Eye and Ear (RP caused by a mutation in RP1)
• Mass Eye and Ear (Retinal disease caused by a mutation in USH2A)
• UCLA (Usher syndrome 1B caused by a mutation in MYO7A)

Learn more about the Allergan-Editas CRISPR trial by listening to the story on NPR.