BioMarin Pharmaceutical and the n-Lorem Foundation have entered into a collaboration and global exclusive licensing agreement to develop a first-in-disease antisense oligonucleotide (ASO) therapy for people living with ReNU syndrome, a rare neurodevelopmental disorder caused by variants in the RNU4-2 gene.

Under the agreement, the two organisations will jointly advance an investigational ASO candidate targeting the RNU4-2 variant, which is estimated to account for nearly 75 percent of ReNU syndrome cases. Both BioMarin and n-Lorem will conduct preclinical studies and collaborate to identify the lead candidate for clinical development.

ReNU syndrome was first identified in 2024 by an international team of geneticists led by Dr. Nicola Whiffin of the University of Oxford's Big Data Institute and Dr. Ernest Turro of the Icahn School of Medicine at Mount Sinai. Currently, there are no approved therapies that address the underlying cause of the disease.

Commenting on the collaboration, Kevin Eggan, Ph.D., Chief Scientific Officer at BioMarin, said, "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. 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 primarily focuses on developing ASO medicines for ultra-rare conditions affecting approximately 30 individuals or fewer worldwide. For diseases with the potential to benefit a larger patient population, the foundation collaborates with partners capable of advancing therapies through clinical development and commercialisation.

As part of the collaboration, n-Lorem has already initiated its ReNU syndrome programme and accepted several patients with RNU4-2 variants for individualised clinical trials. BioMarin will lead the broader development of the investigational therapy for the wider ReNU syndrome community.

Stanley T. Crooke, M.D., Ph.D., Founder, Chairman and CEO of n-Lorem Foundation, said, "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. 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."

ReNU syndrome is a rare genetic neurodevelopmental disorder associated with cognitive, language and adaptive behavioural impairments and is projected to become one of the leading monogenic causes of developmental delay, with an estimated global patient population of approximately 100,000.