SAN RAFAEL, Calif. & SAN DIEGO, July 27, 2026
BioMarin Pharmaceutical Inc. and the n-Lorem Foundation have announced a strategic collaboration and global exclusive license agreement to develop a potential first-in-disease antisense oligonucleotide (ASO) medicine for ReNU syndrome, a newly identified rare neurodevelopmental disorder caused by mutations in the RNU4-2 gene. The collaboration combines BioMarin’s leadership in genetic medicines with n-Lorem’s pioneering expertise in antisense oligonucleotide technology, aiming to advance a novel investigational therapy that targets the RNU4-2 (n.64_65insT) genetic variant, which is estimated to account for approximately 75% of ReNU syndrome cases. First identified in 2024, ReNU syndrome currently has no approved disease-modifying therapies, making this partnership a significant milestone in the development of precision genetic medicines for patients with rare neurological disorders. The collaboration reflects a shared commitment to accelerating innovation in RNA-targeted therapeutics and expanding treatment options for underserved patient populations worldwide.
Collaboration Targets the Genetic Cause of ReNU Syndrome
The new partnership will focus on advancing an investigational antisense oligonucleotide (ASO) designed to directly address the underlying genetic mutation responsible for ReNU syndrome. Under the agreement, BioMarin and n-Lorem Foundation will jointly conduct preclinical research, evaluate candidate molecules, and select the lead investigational therapy for future clinical development. Unlike treatments that primarily manage symptoms, the proposed ASO medicine is intended to target the disease at its genetic source by modifying abnormal RNA activity associated with the RNU4-2 gene variant. ReNU syndrome is associated with cognitive impairment, language delays, and adaptive behavioral challenges, and researchers estimate the condition could affect approximately 100,000 people globally, making it one of the leading monogenic causes of developmental delay. By combining complementary scientific capabilities, both organizations aim to accelerate the delivery of a first-in-disease therapy for this serious unmet medical need.
Combining Genetic Medicine and RNA Therapeutics Expertise
The collaboration brings together two recognized leaders in genetic medicine and RNA-targeted therapeutics. BioMarin has established itself as a global leader in developing therapies for genetically defined rare diseases, with an extensive commercial portfolio and pipeline focused on innovative genetic medicines. Meanwhile, the n-Lorem Foundation has pioneered the development of individualized antisense oligonucleotide therapies for nano-rare diseases, providing experimental treatments for patients with ultra-rare genetic disorders affecting only a handful of individuals worldwide. Because ReNU syndrome has the potential to affect a substantially larger patient population, the foundation selected BioMarin as its development and commercialization partner. Under the collaboration, n-Lorem will continue supporting individualized patient programs while BioMarin assumes responsibility for advancing the investigational medicine toward broader global clinical development, regulatory evaluation, and eventual commercialization.
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Strategic Partnership Advances Rare Disease Innovation
The agreement reinforces BioMarin’s long-term commitment to expanding its leadership in rare disease therapeutics while highlighting the increasing role of antisense oligonucleotide technology in addressing genetically driven neurological disorders. As advances in genomic research continue to identify new rare diseases, collaborations that unite academic discoveries, nonprofit innovation, and commercial drug development are becoming increasingly important for translating scientific breakthroughs into meaningful therapies. The partnership also demonstrates growing industry momentum toward precision medicine, where treatments are specifically designed to correct disease-causing genetic abnormalities rather than simply manage symptoms. If successfully developed, the investigational ASO therapy could become the first approved medicine for ReNU syndrome, offering hope to thousands of patients and families while establishing a new therapeutic approach for one of the newest recognized neurodevelopmental disorders.
Source: BioMarin press release
