BioMarin and n-Lorem Foundation Enter Early Research Collaboration to Develop Potential First-in-Disease Medicine for Newly Identified ReNU Syndrome

About this update from Biomarin Pharmaceutical Inc.

ReNU syndrome was discovered in 2024 and there are no medicines approved for the condition Collaboration combines BioMarin's leadership in genetic medicines with n-Lorem's pioneering antisense expertiseInvestigational antisense oligonucleotide (ASO) aims to address the underlying genetic cause of this serious neurodevelopmental condition SAN RAFAEL, Calif. and SAN DIEGO, July 27, 2026 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) and n-Lorem Foundation, a nonprofit organization, today announced a strategic collaboration and global exclusive license agreement to develop a first-in-disease, antisense oligonucleotide (ASO) medicine for people living with ReNU syndrome, a serious and rare neurodevelopmental condition caused by variants in the RNU4-2 gene.Under the agreement, BioMarin and n-Lorem will collaborate to advance an investigational ASO candidate targeting the RNU4-2 (n.64_65insT) variant, which is estimated to account for approximately 75% of ReNU syndrome cases. ReNU syndrome was first discovered 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 the Mt. Sinai Icahn School of Medicine. There are currently no approved medicines that address the underlying cause of disease.Both BioMarin and n-Lorem will conduct preclinical studies and collaborate to select the lead candidate to move forward in clinical studies."ReNU syndrome was identified as a distinct genetic condition in 2024, thanks in large part to the pioneering efforts of families, advocates and researchers who helped raise awareness and accelerate understanding of this condition," said Kevin Eggan, Ph.D., Chief Scientific Officer at BioMarin. "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. 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."The n-Lorem Foundation typically focuses on conditions with a very small number of individuals (approximately 30 people or less) worldwide. When a program has the potential to reach a broader population, the foundation seeks a partner such as BioMarin to support development. In the case of ReNU ...

View stock analysis, news, and events for Biomarin Pharmaceutical Inc.