Dec 13, 2021

Ocugen to Launch Clinical Trial for Cross-Cutting RP Gene Therapy

Eye On the Cure Research News

The clinical trial is for RHO and NR2E3 mutations, but the retinal gene therapy has the potential to benefit people with a variety of other mutated genes

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Ocugen, a developer of gene therapies targeting eye diseases as well as a vaccine for COVID-19, has received authorization from the US Food & Drug Administration to launch an 18-participant, Phase 1/2, NR2E3 gene therapy clinical trial for the following conditions:

  • Retinitis pigmentosa caused by autosomal dominant mutations in NR2E3
  • Retinitis pigmentosa caused by autosomal dominant mutations in rhodopsin (RHO)
  • Retinitis pigmentosa, enhanced S-cone syndrome, and Goldmann-Favre syndrome caused by autosomal recessive mutations in NR2E3

Additional information on trial sites and participant enrollment is forthcoming on

Known as OCU400, the emerging gene therapy uses a human-engineered adeno-associated virus (AAV) to deliver copies of the NR2E3 gene to retinal cells. OCU400 is designed to potentially slow disease progress for many inherited retinal diseases, independent of the mutated gene causing the patients’ retinal condition.

Known as a “modifier” gene therapy, OCU400 targets nuclear hormone receptors, which regulate multiple important functions within the retina, giving it the potential to address retinal disease caused by many different gene mutations. A single subretinal injection of OCU400 is designed to be effective for many years, perhaps the lifetime of the recipient.

“We are pleased to see Ocugen’s emerging gene therapy move toward a clinical trial because it has the potential to treat those with mutations in the NR2E3 gene and the potential to address retinal disease for people affected by a broad range of genetic profiles,” says Ben Yerxa, PhD, chief executive officer at the Foundation Fighting Blindness. “With approximately 300 genes associated with inherited retinal diseases, gene-agnostic treatment approaches are particularly attractive.”

In early stages, retinitis pigmentosa typically causes loss of peripheral vision and vision in dim and dark settings. As the condition progresses, vision constricts further, leading to legal blindness.

In people with enhanced S-cone syndrome, rod photoreceptors, and red and green cone photoreceptors degenerate, but S-cones (blue) are greater in number and enhanced. Patients have increased sensitivity to blue light with night blindness and impaired central vision.

Goldmann-Favre syndrome is a severe form of enhanced S-cone syndrome.