BioMarin Pharmaceutical (Nasdaq: BMRN) and the n-Lorem Foundation announced a strategic collaboration and global exclusive license agreement to develop an antisense oligonucleotide (ASO) medicine for ReNU syndrome, a rare neurodevelopmental condition caused by variants in the RNU4-2 gene.

ReNU syndrome was first identified in 2024 by an international team of geneticists led by Dr. Nicola Whiffin at the University of Oxford's Big Data Institute and Dr. Ernest Turro at Mt. Sinai Icahn School of Medicine. There are currently no approved medicines that address the underlying cause of the condition. The global population with ReNU syndrome is estimated at approximately 100,000, with the condition associated with cognitive, language, and adaptive behavioral impairments.

Under the agreement, BioMarin and n-Lorem will conduct preclinical studies and collaborate to select a lead candidate targeting the RNU4-2 (n.64_65insT) variant, which is estimated to account for approximately 75% of ReNU syndrome cases. BioMarin will lead development of the investigational medicine for the broader ReNU syndrome population.

n-Lorem, a nonprofit that typically focuses on conditions affecting approximately 30 or fewer individuals worldwide, said it had already accepted a number of patients with RNU4-2 variants to initiate individualized clinical trials. The foundation said it sought a commercial partner when a program showed potential to reach a larger population.

"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," said Kevin Eggan, Ph.D., Chief Scientific Officer at BioMarin.

Stanley T. Crooke, M.D., Ph.D., Founder, Chairman and CEO of n-Lorem, said the foundation's commitment is to develop ASO medicines and, when the opportunity arises, identify a partner that can advance those medicines toward commercial approval.

Financial terms of the agreement were not disclosed.