BioMarin Pharmaceutical Inc. and n-Lorem Foundation 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.

Under the terms of the agreement, BioMarin and n-Lorem are expected to collaborate to advance an investigational ASO candidate targeting the RNU4-2 (n.64_65insT) variant, estimated to account for approximately 75% of ReNU syndrome cases.¹ Both organizations are set to conduct preclinical studies along with working together to select the lead candidate to move forward into clinical studies.¹

As of July 2026, there are currently no approved medicines that address the underlying cause of the disease.

What Is ReNU Syndrome?

ReNU syndrome was first identified as a distinct genetic condition 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.² It is a neurodevelopmental disorder, meaning it affects how the brain functions, with effects on learning, behavior, speech, and movement. ReNU syndrome is caused by specific pathogenic variants in the DNA sequence of the RNU4-2 gene.²

Common features associated with the condition include short stature, small head size (microcephaly), visual loss or eye movement problems, brittle bones, and seizures, with many additional features observed across affected individuals.² As with other genetic conditions, presentation varies from person to person.

ReNU syndrome is projected to be one of the leading monogenetic causes of developmental delay and impairment, with an expected global population of approximately 100,000 affected individuals.²

Why Does This Collaboration Matter?

"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 affecting a very small number of individuals, approximately 30 people or fewer worldwide.¹ 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 syndrome, n-Lorem began its program and accepted a number of patients with the RNU4-2 variant to initiate individualized clinical trials in the coming months. Through the new collaboration, BioMarin is set to lead development of the investigational medicine for the wider ReNU syndrome community.¹

"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."

Sources

1. BioMarin and n-Lorem Foundation Enter Early Research Collaboration to Develop Potential First-in-Disease Medicine for Newly Identified ReNU Syndrome BioMarin July 27, 2026 https://investors.biomarin.com/news/news-details/2026/BioMarin-and-n-Lorem-Foundation-Enter-Early-Research-Collaboration-to-Develop-Potential-First-in-Disease-Medicine-for-Newly-Identified-ReNU-Syndrome/default.aspx
2. RNU4-2 -ReNU syndrome Unique Rarechromo Date Accessed July 28, 2026 https://rarechromo.org/media/singlegeneinfo/Single%20Gene%20Disorder%20Guides/ReNU%20syndrome%20FTNW.pdf