BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) and n-Lorem Foundation, a nonprofit, have 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 Nicola Whiffin at the University of Oxford’s Big Data Institute and Ernest Turro at the Mt. Sinai Icahn School of Medicine. There are currently no approved medicines that address the underlying cause of disease.
ReNU syndrome is a rare genetic neurodevelopmental condition associated with cognitive, language and adaptive behavioural impairments. ReNU syndrome is projected to be one of the leading monogenetic causes for developmental delay and impairment, with an expected global population of approximately 100,000.
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, 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 approximately 30 people or less worldwide. When a programme has the potential to reach a broader population, the foundation seeks a partner such as BioMarin to support development. In the case of ReNU syndrome, the foundation began its programme and accepted patients with RNU4-2 to initiate individualised clinical trials in the coming months. Through this new collaboration, BioMarin will lead the development of the investigational medicine for the wider ReNU syndrome community.
“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, 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.”