BioMarin and n-Lorem Foundation Enter Early Research Collaboration to Develop Potential First-in-Disease Medicine for Newly Identified ReNU Syndrome

ReNU syndrome was discovered in 2024 and there are no medicines approved for the condition

Collaboration combines BioMarin's leadership in genetic medicines with n-Lorem's pioneering antisense expertise

Investigational antisense oligonucleotide (ASO) aims to address the underlying genetic cause of this serious neurodevelopmental condition

- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) and n-Lorem Foundation, a nonprofit organization, today 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 Dr. Nicola Whiffin at the University of Oxford's Big Data Institute and Dr. Ernest Turro at the Mt. 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.

"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 with a very small number of individuals (approximately 30 people or less) worldwide. 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, the foundation began its program and accepted a number of patients with RNU4-2 to initiate individualized 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, 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."

ReNU syndrome is a rare genetic neurodevelopmental condition associated with cognitive, language and adaptive behavioral 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.

About BioMarin

BioMarin is a leading, global rare disease biotechnology company focused on delivering medicines for people living with genetically defined conditions. Founded in 1997, the San Rafael, California-based company has a proven track record of innovation, with nine commercial therapies and a strong clinical and preclinical pipeline. Using a distinctive approach to drug discovery and development, BioMarin seeks to unleash the full potential of genetic science by pursuing category-defining medicines that have a profound impact on patients. To learn more, please visit www.biomarin.com. 

About n-Lorem

n-Lorem Foundation is a non-profit organization established to apply the efficiency, versatility and specificity of antisense technology to charitably provide experimental antisense oligonucleotide (ASO) medicines to treat nano-rare patients diagnosed with diseases that are the result of a single genetic defect unique to only one or very few individuals. Nano-rare patients describe a very small group of patients (1-30 worldwide) who, because of their small numbers, have few if any treatment options. n-Lorem Foundation was created to provide hope to these nano-rare patients by developing individualized ASO medicines, which are short strands of modified DNA that can specifically target the transcripts of a defective gene to correct the abnormality. The advantage of experimental ASO medicines is that they can be developed rapidly, inexpensively and are highly specific. To date, n-Lorem received over 475 applications for treatment with more than 275 nano-rare patients approved. n-Lorem was founded by Stanley T. Crooke, M.D., Ph.D., former chairman and CEO of Ionis Pharmaceuticals, who founded Ionis Pharmaceuticals in 1989 and, through his vision and leadership, established the company as the leader in RNA-targeted therapeutics. For more information, please visit www.nlorem.org.

Forward-Looking Statements

This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc. (BioMarin), including without limitation, statements about: plans and expectations regarding the strategic collaboration and global exclusive license agreement between BioMarin and n-Lorem Foundation to develop a first-in-disease, antisense oligonucleotide (ASO) medicine for people living with ReNU syndrome; prospects and timing of actions relating to preclinical and clinical studies and approvals; and BioMarin's estimates regarding global population with ReNU syndrome as well as the prevalence of the RNU4-2 variant. These forward-looking statements are predictions and involve risks and uncertainties such that actual results may differ materially from these statements. These risks and uncertainties include, among others, results and timing of planned preclinical and clinical studies; the content and timing of decisions by the U.S. Food and Drug Administration, the European Medicines Agency, the European Commission and other regulatory authorities; and those factors detailed in BioMarin's filings with the Securities and Exchange Commission (SEC), including, without limitation, the factors contained under the caption "Risk Factors" in BioMarin's Quarterly Report on Form 10-Q for the quarter ended March 31, 2026, as such factors may be updated by any subsequent filings with the SEC. Investors are urged not to place undue reliance on forward-looking statements, which speak only as of the date hereof. BioMarin is under no obligation, and expressly disclaims any obligation to update or alter any forward-looking statement, whether as a result of new information, future events or otherwise.

BioMarin^® is a registered trademark of BioMarin Pharmaceutical Inc.

BioMarin Contacts:

Investors 
Traci McCarty 
BioMarin Pharmaceutical Inc. 
(415) 455-7558 

Media
Andrew Villani
BioMarin Pharmaceutical Inc.
(628) 269-7393

n-Lorem Foundation Contact:

Amy Williford
n-Lorem Foundation
(760) 378-8005

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SOURCE BioMarin Pharmaceutical Inc.