J&J’s Gene Therapy for Rare Eye Disease Fails Primary Endpoint in Phase 3 Trial

NEW BRUNSWICK, N.J. – May 5, 2025 – Pharmaceutical giant Johnson & Johnson is facing potential disappointment after its gene therapy aimed at treating a rare inherited eye disorder, X-linked retinitis pigmentosa (XLRP), did not meet the primary goal of a pivotal late-stage study. The results from the Phase 3 LUMEOS trial, made public on May 2nd, indicated that the treatment did not significantly improve the vision-guided mobility of patients with this progressive condition.

The LUMEOS trial involved 95 participants, with 58 individuals receiving either a low or a high single administration of botaretigene sparoparvovec (bota-vec). This investigational gene therapy utilizes an adeno-associated viral (AAV) vector to deliver a functional version of the retinitis pigmentosa GTPase regulator (RPGR) gene directly to the retina.

XLRP represents a severe and uncommon form of retinitis pigmentosa, a degenerative eye disease characterized by the gradual breakdown of photoreceptor cells, ultimately leading to blindness. The condition typically manifests during childhood and predominantly affects males, with the LUMEOS trial including only a small number of female patients.

In a combined analysis of all participants who received bota-vec, the trial’s primary endpoint, which assessed the improvement in patients’ ability to navigate a virtual maze using their vision, was not met. However, Johnson & Johnson indicated that the result showed a “directionally supportive” trend. A company spokesperson conveyed to Fierce Biotech, “We are currently working to thoroughly understand the entirety of the data, including the clinical relevance of the improvements observed across the majority of secondary endpoints, as we evaluate strategic options and determine the next course of action.”

The announcement also noted that all patients who received bota-vec experienced at least one treatment-emergent adverse event, with 86% of these events categorized as mild or moderate in severity. Over half (53%) of the patients experienced at least one adverse event considered to be associated with bota-vec.

Bota-vec did demonstrate improvements in several of the trial’s secondary endpoints, including patient-reported vision and scores on a standardized visual acuity test using a letter chart. While these results yielded p-values below 0.05, Johnson & Johnson emphasized that these values were for descriptive purposes only and were not presented as statistically significant.

Overall, Johnson & Johnson reported that 22 out of 55 treated patients showed improvement across two or more secondary endpoints, whereas no patients in the control group exhibited such improvements. As of April 25th, the company was still conducting a Phase 3 follow-up study for participants from the initial late-stage trial.

Bota-vec was initially a collaborative development between Johnson & Johnson’s Janssen unit and genetic medicines company MeiraGTx. In late December 2023, Johnson & Johnson acquired full rights to the program in a deal with a potential value of $415 million.