n-Lorem Foundation
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Enrollment closed. There is no further RNU4-2 enrollment with n-Lorem.
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“The n-Lorem Foundation, which typically focuses on conditions affecting approximately 30 people or less worldwide, had begun its program and accepted patients with RNU4-2 to initiate individualized clinical trials in the coming months. The foundation seeks partners when a program has the potential to reach a broader population.” “BioMarin will lead the development of the investigational medicine for the wider ReNU syndrome community.” (source)
Tackling RNA-caused Diseases: A Focus on RNU4-2 at the Nano-rare Patient Colloquium 2025
RNU4-2 has been added to n-Lorem’s Submitted Genes: https://www.nlorem.org/patients/submitted-genes/
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Currently accepted participants in n-Lorem’s allele-selective ASO progam may continue.
No new participants will be accepted at this time.
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n-Lorem Foundation provides the framework, funds and access for nano-rare patients who are amendable to our technology to receive experimental antisense oligonucleotides (ASOs) for free, for life.
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What was announced?
BioMarin Pharmaceutical Inc. and the n-Lorem Foundation announced a strategic collaboration to develop a potential first-in-disease medicine for ReNU syndrome.
The organizations will work together on an investigational antisense oligonucleotide (ASO) designed to target the RNU4-2 n.64_65insT variant. BioMarin will ultimately lead development of the investigational medicine for the broader ReNU syndrome community.
This is an exciting and important step, but the program is still in early research and preclinical development. There is currently no approved treatment for ReNU syndrome.
What is an ASO?
An antisense oligonucleotide, or ASO, is a short, specially designed strand of genetic material that can target RNA.
ASOs can be designed to alter how a specific genetic change affects cells. The investigational program being developed by BioMarin and n-Lorem is intended to address the underlying genetic cause of ReNU syndrome associated with the targeted RNU4-2 variant.
Importantly, this medicine is still investigational and its safety and effectiveness have not yet been established.
Is this the same ReNU program n-Lorem was already working on?
Yes. n-Lorem began working on individualized ASO treatments for a number of people with RNU4-2 variants.
The new collaboration builds upon that work. According to the announcement, n-Lorem recognized that ReNU syndrome has the potential to affect a much larger population than the nano-rare conditions it typically serves, so it partnered with BioMarin to pursue development for the broader ReNU syndrome community.
Why is BioMarin getting involved?
n-Lorem was created primarily to develop individualized medicines for nano-rare conditions, generally affecting approximately 1–30 people worldwide.
ReNU syndrome is very different in potential scale. BioMarin and n-Lorem state that the expected global ReNU syndrome population is approximately 100,000 people.
BioMarin is a global biotechnology company specializing in genetically defined rare diseases. Through the collaboration, BioMarin brings scientific, clinical, regulatory, development, and commercial capabilities that could potentially allow an investigational treatment to be developed for a much broader patient population.
Is n-Lorem still accepting new ReNU syndrome patients?
No. n-Lorem is no longer enrolling new RNU4-2 patients into its individualized treatment program. The ReNU program will instead move forward through the collaboration with BioMarin for broader development.
What happens to the ReNU patients already accepted by n-Lorem?
Patients already accepted into n-Lorem's program will continue in that program without interruption. n-Lorem has indicated that it is still working toward treating its first ReNU syndrome patient in 2026. The BioMarin collaboration does not mean those existing patients are being removed from n-Lorem's program.
Does this mean there is now a treatment for ReNU syndrome?
No. There are currently no approved medicines that address the underlying cause of ReNU syndrome. BioMarin and n-Lorem are developing an investigational ASO. Both organizations will conduct preclinical studies and work together to select a lead candidate that could potentially advance into clinical studies.
This announcement represents an important step toward a potential treatment, not an approved treatment.
Which ReNU syndrome variant is being targeted?
The program targets RNU4-2 n.64_65insT.
BioMarin and n-Lorem estimate that this variant accounts for approximately 75% of diagnosed ReNU syndrome cases, making it the most common known ReNU syndrome variant.
What if my child has a different RNU4-2 variant?
The announced BioMarin–n-Lorem program specifically targets n.64_65insT.
The announcement does not provide information about development programs for other RNU4-2 variants, so we do not yet know whether or how other variants could be included in future development.
ReNU Syndrome United remains committed to advocating for and supporting the entire ReNU syndrome community, regardless of variant.
When will a clinical trial begin?
No clinical trial timeline has been announced.
The program is currently in early research and preclinical development. BioMarin and n-Lorem must conduct additional work, select a lead candidate, and complete the necessary development and regulatory steps before clinical studies could begin.
While we anticipate this process will take at least a year or more, that is an assumed expectation, not a timeline announced by BioMarin or n-Lorem. Drug development timelines can change substantially based on research findings and regulatory requirements.
Who will be eligible for a future clinical trial?
We don't know yet. No eligibility criteria have been announced.
That means we do not yet know:
What ages could participate
Which clinical characteristics may be required
Where study sites would be located
How many participants could enroll
What countries would participate
What other inclusion or exclusion criteria would apply
Those decisions would be made as the program progresses toward clinical development.
Will the clinical trial be available internationally?
That has not yet been announced.
BioMarin does have a substantial international presence, with commercial operations in approximately 80 countries, which could be important for the ReNU community if the program successfully progresses.
However, the countries and sites for any future ReNU clinical studies have not been determined.
Does BioMarin's involvement mean the medicine will eventually be available globally?
It is too early to know.
BioMarin and n-Lorem entered into a global exclusive license agreement, and BioMarin has global drug-development and commercial capabilities. Those are encouraging factors for a geographically dispersed community.
However, an investigational medicine must successfully progress through research, clinical development, and applicable regulatory review before it could become an approved treatment. Approval and access can also differ by country.
Does this announcement mean BioMarin has acquired the ReNU program?
The announcement describes the arrangement as a strategic collaboration and global exclusive license agreement
n-Lorem and BioMarin will collaborate on preclinical work and selection of the lead ASO candidate, while BioMarin will lead development of the investigational medicine for the wider ReNU syndrome population.
Why is this announcement so significant for the ReNU community?
ReNU syndrome was only identified as a distinct genetic condition in 2024, and there are currently no approved medicines that address its underlying cause.
Only two years later, a global biotechnology company and an organization specializing in antisense technology are collaborating on an investigational medicine specifically targeting ReNU syndrome.
The announcement also publicly recognizes something particularly important for our community: ReNU syndrome may affect far more people than the number currently diagnosed.
ReNU syndrome is projected to be one of the leading monogenic causes of developmental delay and impairment, with an expected global population of approximately 100,000 people.
What should families do right now?
There is no clinical trial to enroll in yet, and families do not need to race to secure a place in a study that has not been designed or opened.
What families can do now is stay connected to ReNU Syndrome United, keep medical and genetic records organized, participate in available ReNU syndrome research opportunities when appropriate, and make sure their exact RNU4-2 variant is documented in their genetic testing report.
As additional information about the BioMarin program becomes publicly available, ReNU Syndrome United will work to help families understand what it means.
Where can I find updates?
ReNU Syndrome United will continue sharing verified information with the community as the program progresses.
Because this is an investigational drug-development program, many important details, including timelines, eligibility, age ranges, trial locations, dosing, and eventual regulatory outcomes, simply aren't known yet. We want to celebrate this important milestone while being careful not to speculate beyond what BioMarin and n-Lorem have announced
