BioMarin and n-Lorem (a non-profit organisation) have started 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 Mount 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.
The n-Lorem Foundation typically focuses on conditions with a very small number of individuals (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 program and accepted a number of 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.
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.
