BioMarin and n-Lorem Partner to Develop Advanced Antisense Therapy For Rare RNU4-2 Genetic Disorder

BioMarin Pharmaceutical and the n-Lorem Foundation have entered into a strategic collaboration and global exclusive licence agreement to develop a potential first-in-disease antisense oligonucleotide (ASO) therapy for people living with ReNU syndrome, a rare and serious neurodevelopmental disorder caused by variants in the RNU4-2 gene. The partnership aims to address an underlying genetic cause for which there are currently no approved treatments.

Under the agreement, the two organisations will work together to advance an investigational ASO targeting the RNU4-2 (n.64_65insT) variant, which is estimated to account for around 75% of ReNU syndrome cases. Both BioMarin and n-Lorem will conduct preclinical research and collaborate on selecting a lead candidate for future clinical development.

"We are proud to partner with BioMarin, a company that shares our urgency and has the scientific, clinical, and commercial expertise to bring this innovative new medicine to better help people living with ReNU Syndrome globally," said Stanley T. Crooke, M.D., Ph.D., Founder, Chairman and CEO of n-Lorem. "Our commitment is to develop ASO medicines and, when we recognize the opportunity to support even more individuals, identify a partner that can advance our medicines to be commercially approved."

The n-Lorem Foundation typically develops personalised medicines for ultra-rare diseases affecting approximately 30 or fewer people worldwide. When a programme has the potential to benefit a substantially larger patient population, the foundation seeks a development partner. For ReNU syndrome, n-Lorem has already initiated work with affected patients and plans to begin individualised clinical trials in the coming months. Through the new collaboration, BioMarin will take the lead in developing the investigational treatment for the broader ReNU syndrome community.

"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."

First identified in 2024 by an international team of genetic researchers led by scientists from the University of Oxford's Big Data Institute and the Icahn School of Medicine at Mount Sinai, ReNU syndrome is associated with cognitive, language and adaptive behavioural impairments. The condition is expected to affect approximately 100,000 people globally, potentially making it one of the leading monogenic causes of developmental delay and impairment.