BioMarin, n-Lorem Join Forces on ReNU Syndrome Therapy

BioMarin Pharmaceutical and the n-Lorem Foundation have entered a strategic collaboration to develop what could become the first disease-modifying treatment for ReNU syndrome, a rare genetic neurodevelopmental disorder with no approved therapies.

The companies announced a global exclusive licensing agreement to jointly develop an investigational antisense oligonucleotide (ASO) medicine targeting the RNU4-2 (n.64_65insT) genetic variant, which is believed to cause around 75% of ReNU syndrome cases.

The collaboration marks an important step for patients and families affected by the recently identified condition, which was first recognized as a distinct genetic disorder in 2024 by an international team of researchers 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.

ReNU syndrome is a serious neurodevelopmental disorder linked to mutations in the RNU4-2 gene. It is associated with cognitive impairment, delayed language development, and difficulties with adaptive behavior. Although considered a rare disease, researchers estimate that ReNU syndrome could affect approximately 100,000 people worldwide, making it one of the most common monogenic causes of developmental delay.

Under the agreement, BioMarin and n-Lorem will work together during the preclinical phase to evaluate and optimize the investigational ASO candidate before selecting a lead candidate for clinical development. Once the program advances, BioMarin will take the lead in developing the therapy for the broader ReNU syndrome patient population.

Kevin Eggan, Ph.D., Chief Scientific Officer at BioMarin, said the collaboration builds on the rapid scientific progress made since ReNU syndrome was first identified. He noted that while a diagnosis now offers families greater clarity about the cause of the condition, no treatments currently address its underlying genetic mechanism.

According to Eggan, combining BioMarin’s expertise in genetic medicines with n-Lorem’s experience in developing antisense therapies could accelerate the development of the first targeted treatment for people living with ReNU syndrome.

The n-Lorem Foundation specializes in creating individualized ASO medicines for patients with ultra-rare genetic diseases, typically affecting fewer than 30 people worldwide. When a therapy has the potential to benefit a larger patient population, the nonprofit partners with pharmaceutical companies capable of advancing development through clinical trials and regulatory approval.

The foundation had already begun work on an ASO program for patients with RNU4-2 mutations and plans to initiate individualized clinical trials in the coming months. Through the new partnership, BioMarin will expand development efforts to support the wider ReNU syndrome community.

Stanley T. Crooke, M.D., Ph.D., founder, chairman and CEO of the n-Lorem Foundation, said the organization is committed to ensuring that promising ASO medicines reach as many patients as possible. He added that BioMarin’s scientific, clinical, and commercial capabilities make it well positioned to advance the investigational therapy toward potential global approval.

If successful, the collaboration could deliver the first treatment designed to target the genetic cause of ReNU syndrome, offering new hope to thousands of patients and families affected by the disorder.