J&J gene therapy fails in rare eye disease trial

In a phase 3 trial, experimental AAV gene therapy, botaretigene sparoparvovec (bota-vec), failed to meet the primary endpoint of improving vision-guided mobility in patients with a rare inherited retinal disease, J&J revealed earlier this week.

The LUMEOS phase 3 clinical trial enrolled 95 patients with X-linked retinitis pigmentosa (XLRP), a severe form of retinitis pigmentosa, a group of inherited retinal diseases that that cause serious vision impairment and blindness. 58 trial participants received a single dose of bota-vec. The primary endpoint — patients’ ability to visually navigate a virtual maze — was not met.

According to J&J, the result was “not statistically significant but was directionally supportive.” The company reported improvement on secondary endpoints, including functional vision and retinal function.

J&J, through subsidiary Janssen Pharmaceuticals, purchased the full rights to bota-vec in a 2023 deal with MeiraGTx. Through the deal, J&J paid MeiraGTx an initial $130 million in upfront and near-term milestone payments. MeiraGTx was set to receive up to an additional $285 million in cash payments upon first commercial sales of bota-vec in the U.S. and EU.

XLRP is most commonly caused by a defect in the RPGR gene, which encodes a protein called X-linked retinitis pigmentosa GTPase regulator that plays a vital role in the development of the cells that make up the retina, a thin layer of tissue found on the back wall of the eye. Bota-vec uses an adeno-associated virus to deliver a healthy copy of the RPGR gene to the retina.