BioMarin Enters Research Collaboration with n-Lorem to Develop First-in-Disease Medicine

Rare Daily Staff

BioMarin Pharmaceutical and the n-Lorem Foundation have entered an early-stage research collaboration aimed at developing what could become the first targeted therapy for ReNU syndrome, a recently identified genetic neurodevelopmental disorder.

The agreement grants BioMarin a global exclusive license to advance an experimental antisense oligonucleotide (ASO) therapy designed to address the underlying genetic cause of the condition.

For BioMarin, the deal expands its pipeline of RNA-targeted approaches. For n-Lorem, the agreement provides a pathway to extend its patient-specific drug development model into a more traditional commercial framework when warranted by disease prevalence.

Although only recently discovered, ReNU syndrome is projected to affect up to 100,000 individuals globally, positioning it as a potentially significant monogenic contributor to developmental delay. The condition is associated with cognitive, language, and adaptive behavioral impairments. First characterized in 2024, ReNU syndrome is linked to variants in the RNU4-2 gene and currently has no approved treatments.

The collaboration will initially focus on preclinical development of an ASO candidate targeting the RNU4-2 (n.64_65insT) variant, which researchers estimate accounts for roughly 75 percent of cases. The partners will jointly conduct early studies and select a lead candidate for potential clinical development, with BioMarin expected to lead advancement of the program for broader patient populations.

The n-Lorem Foundation, founded by Ionis Pharmaceuticals veteran Stanley Crooke, typically focuses on so-called “nano-rare” diseases affecting very small patient populations. In cases where a therapy may benefit a larger group, the organization seeks commercial partners to scale development. ReNU syndrome represents one such opportunity.

n-Lorem has already initiated efforts to develop individualized ASO treatments for a subset of patients with RNU4-2 variants and plans to begin early clinical studies in the coming months. Through the new agreement, BioMarin will expand those efforts toward a broader, potentially registrational pathway.

“For many families, a ReNU diagnosis can finally provide answers, but currently there are no approved medicines that address the underlying cause of the disease,” said Kevin Eggan, chief scientific officer at BioMarin. “By combining BioMarin’s expertise in genetic medicines with n-Lorem’s pioneering antisense capabilities, we aim to bring the first treatment option for people living with ReNU syndrome.”

Photo: Stanley Crooke, founder of n-Lorem