From NF to the World: Rare Disease Day and the Race for Faster Treatments

This has been a February to remember!

In just a few weeks, a new drug was approved for neurofibromatosis type 1 (NF1), a biotech launched to develop next-generation NF treatments, and the first patient was dosed in a clinical trial for an AI-powered NF drug.

This is what momentum looks like.

But none of this happened by chance. Each of these breakthroughs—Gomekli (mirdametinib) gaining FDA approval for both kids and adults, CureAge Therapeutics launching, and Healx reaching its first in-human milestone—happened because of a new way of doing things—a faster, smarter, more collaborative approach to research.

That’s why, on this Rare Disease Day, we’re not just raising awareness—we’re proving what’s possible when research moves with urgency and when patients are at the center.

For decades, rare disease drug development has faced a frustrating paradox: the conditions are serious and often life-threatening, but because relatively few people have them, pharmaceutical companies were hesitant to invest. Developing a drug from scratch takes years and billions of dollars, with no guarantees. For rare diseases, that’s time we don’t have.

But what if the treatments are already out there, waiting to be put to use?

That’s where organizations like ours come in. At the Children’s Tumor Foundation (CTF), we don’t wait. We don’t stand on the sidelines. We’ve built a model that accelerates research, removes roadblocks, and moves treatments to patients faster. By identifying existing drugs with untapped potential and pushing them forward, we’re reshaping what’s possible for NF—which refers to all forms of neurofibromatosis and schwannomatosis—and for rare diseases everywhere.

The Power of Drug Repositioning

The fastest way to deliver treatments isn’t always by creating new ones—it’s also by unlocking what’s already there.

Some of the most promising treatments for NF didn’t start as NF drugs—but they became them. By identifying existing drugs with untapped potential, we can move treatments forward faster, with less risk and lower cost.

That’s precisely how Koselugo (selumetinib) became the first-ever FDA-approved treatment for NF.

Initially developed for cancer, it was found to shrink tumors in children with inoperable NF1 plexiform neurofibromas significantly. With strong support from the National Institutes of Health and its National Cancer Institute (NIH/NCI), the Congressionally Directed Medical Research Programs (CDMRP), the Neurofibromatosis Therapeutic Accleration Program (NTAP) and the tremendous commitment from our partners at AstraZeneca, that research moved forward—turning a promising idea into a life-changing treatment for the very first time for patients who only heard ‘watch and wait’ until then.

More recently, Gomekli (mirdametinib) followed the same path. Originally, it was shelved before being repositioned for NF1 through CTF’s advocacy (and more)—and is now the first FDA-approved treatment for adults with the disease.

But repositioning isn’t just about finding new uses for old drugs—it’s about seeing potential where others don’t.

One of the best examples is brigatinib. Originally developed and approved as a targeted therapy for lung cancer, it was on no one’s radar for NF2-related schwannomatosis—until the National Center for Advancing Translational Sciences (NCATS) team within CTF’s Synodos collaboration identified its potential and helped move it forward. It became the first repurposed drug placed into the first-ever platform trial for NF2-SWN, proving how existing drugs could be tested for new uses.

And we’re not stopping there.

• NFX-179, a topical gel, is soon to enter Phase 3 trials and could provide the first non-invasive treatment for a new manifestation of NF1: cutaneous neurofibromas, offering patients an alternative to surgery.
• AI-powered drug discovery is unlocking even more possibilities, like Healx’s HLX-1502, now in clinical trials—a drug that might never have reached patients without this kind of innovation.

This is what a smart, strategic approach to drug development looks like: identifying what works, investing in what’s next, and getting treatments into the hands of patients sooner.

Beyond Finding Drugs—Getting Them to Patients Faster

Finding a promising drug is only the first step. The real challenge is getting it through trials—fast.

The traditional drug development model is designed for large-scale diseases but is too cumbersome,  slow, and expensive for the rare ones. But CTF is changing that.

• Our Preclinical Hub  is a network of public and private partners aimed at fast-tracking and testing potential NF drugs before they even reach human trials—eliminating dead ends early and moving only the best candidates forward.
• Once the clinical-trial-ready drug candidates are selected, clinical evaluation is equally efficient. The CDMRP-funded NF Clinical Trials Consortium connects experts across institutions to expand trial access and speed up treatment options for patients.
• The new CTF-funded NF Platform Basket Trials allow researchers to test multiple drugs simultaneously for various indications, saving time, increasing efficiency, and accelerating results.

Our impact investments do more than provide funding, they provide validation. When CTF backs a treatment, it sends a clear signal to biotech companies and investors: This drug has real potential. And that validation helps speed up the path from discovery to delivery.

And we’re not just accelerating research, we’re making it more precise.

Biomarkers are changing how we fight NF—helping predict which patients will benefit from which treatments before tumors grow or become cancerous. This isn’t just about efficiency. It’s about saving lives.

This is how we’re changing the future of drug development—not just for NF, but for rare diseases everywhere.

Why NF is a Model for Other Rare Diseases

NF isn’t just one disease, it’s a roadmap to solving many. Because NF affects multiple biological pathways, affects multiple organ systems differently, and is progressive, its research has implications far beyond itself. Cancer, neurology, immunology, ENT, orthopedics, and dermatology, just to name a few—treatments developed in these fields could work for NF, and vice versa.

CTF has turned NF’s complexity into an advantage, breaking down silos and accelerating research across multiple disciplines.

The Unique Role of Medical Research Foundations

This kind of progress doesn’t happen on its own.

Medical research foundations like CTF aren’t just funders, we’re catalysts. We de-risk scientific discoveries, bridge gaps, and create a clear path to the clinic.

Another unique property of the community we have built is that we, funders, do not compete—we strategically invest together in accelerating NF research and translating it as fast as possible into better treatments for patients, together. We have therefore been able to build a very collaborative community.

We bring biotech, pharma, academia, and patient communities together, ensuring that the best scientific ideas don’t stall out in the lab but make it to the people who need them.

Without early investment, strategic partnerships, and relentless persistence, drugs like Koselugo and Gomekli might still be sitting on shelves instead of changing lives.

For donors and investors, this isn’t charity, it’s impact. Every dollar invested in rare disease research moves a drug forward, speeds up trials, and brings treatments to patients faster.

This is the CTF model. And it’s working.

What Comes Next?

The success of NF drug repositioning isn’t the finish line, it’s the foundation for what’s next.

With advances in genetic medicine, AI-driven drug discovery, and biomarker research, the ability to match existing drugs to rare diseases is becoming faster, more precise, and more effective than ever. For NF patients, and for the broader rare disease community, that means a future where the question isn’t whether treatments will exist—but how soon can we get them to the people who need them?

This Rare Disease Day reminds us that progress isn’t just happening—it’s happening because of urgent, bold action. We need your support to go faster and farther. 

What You Can Do

The fight against NF, and rare diseases as a whole, depends on collaboration, investment, and action:

Every action—whether signing up, learning more, or contributing—helps move treatments from shelves to clinics, from trials to approvals, and from science to saving lives.

Everything we do is about one goal: getting treatments to patients faster. And none of it happens without you. Thank you for being part of this movement, today, and every day.

With respect and resilient determination, just like the patients we serve,

Annette Bakker, PhD
CEO, Children’s Tumor Foundation
Chair, CTF Europe