5 things we learned at the Rare Drug Development Symposium and why they matter for ASXL families

In September, ARRE Foundation Founder and Chair Laura Badmaev attended the 2025 Rare Drug Development Symposium in Boston, hosted by Global Genes. The symposium brings together leaders from patient advocacy, research, biotech, and regulatory agencies to discuss one shared goal: how to move rare disease treatments forward.

For the ASXL community, events like this are important. They help us make sure the unique challenges of ultra-rare conditions like Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3) are part of the conversation. They also give us an opportunity to learn what’s working, where the field is headed, and how we can best prepare for what’s next.

Here are a few of the most relevant takeaways for ASXL families:

1. The path to treatments is moving faster than ever before

From cystic fibrosis to Angelman syndrome, there are now examples of rare conditions where treatments have been developed in a matter of decades or less. Technology is accelerating, and patient advocacy groups are leading the charge.

2. Families and foundations are the bridge to therapeutics

Unlike common diseases, rare disease organizations like the ARRE Foundation often play a central role in bringing together researchers, clinicians, and industry — groups that often operate in silos. Beyond building these connections at events like the upcoming ASXL Research Symposium, we also lay the groundwork for future clinical trials by creating the systems, patient databases, and research tools and models, that will be needed down the line, such as the ASXL-Related Disorders Natural History Study and REACH Biobank.

3. Your voice and your data are essential

One message came through loud and clear at the Rare Drug Development Symposium: clinical trials are only possible when the community is ready. That means we need foundational research to understand how ASXL-related disorders progress over time, biosamples donated by families, and tools to capture quality-of-life outcomes directly from caregivers.

These inputs shape how future studies are designed and how the success of potential treatments are measured. Without this kind of fundamental data, we wouldn’t be able to determine whether a treatment is truly effective. Learn more about joining an ASXL research study.

4. ARRE Foundation’s approach is on the right track

It was validating to hear that our focus on preclinical science and clinical trial readiness — building a strong baseline of scientific understanding before jumping straight to “find a treatment” — is aligned with what experts recommend and with what has worked for rare diseases that now have approved therapies.

5. The rare disease space is evolving

From the drug approval process to emerging therapeutic platforms, there is more opportunity than ever to make meaningful progress. But it will take strategic partnerships, thoughtful planning, funding, and continued community engagement. The ARRE Foundation is exploring how we can strengthen our Research Roadmap, including the possibility of creating an industry advisory board and planning future sessions with regulatory bodies such as the FDA.

We’ve attended this symposium many times in the past, and it continues to be an invaluable opportunity to learn how small patient advocacy organizations like ours can build a roadmap to therapeutics.

We’re thankful to the Global Genes team and are excited to bring these insights back to the ASXL community.