Fragile X syndrome (FXS) is a challenging condition. For families, it means living with uncertainty, navigating developmental hurdles, and managing daily life while hoping for better treatments. For scientists, it has meant years of steady progress, step by step, toward therapies that can truly make a difference.
This year we are standing at the edge of what could be a historic moment in Fragile X research.
Fragile X Clinical Trials Nearing Results
Two pivotal late-stage trials will soon report results:
- Zatolmilast (Shionogi, formerly Tetra Therapeutics)
These studies build on earlier FRAXA-funded research showing improvements in cognition, language and quality of life. If results hold up, zatolmilast could become the first FDA-approved treatment for Fragile X. - ZYN002 (Harmony Biosciences)
ZYN002 is designed to address behavioral symptoms of Fragile X. Positive outcomes could lead to the first approved treatment for Fragile X behavioral symptoms.
For the Fragile X community, either success would be groundbreaking.
Targeting the Root Cause of Fragile X
At the same time, scientists are looking deeper, toward treatments that address the root cause of Fragile X. FRAXA’s new Curative Therapies Fund is fueling many of the most exciting projects. Here are two examples:
- ASO Therapy (UMass Chan Medical School)
Drs. Joel Richter and Sneha Shah discovered that the Fragile X gene isn’t completely silent. Instead, it often produces a mis-spliced RNA, known as FMR1-217, which blocks protein production. Their team is developing antisense oligonucleotides (ASOs) to correct this error, restore normal protein, and potentially reverse core features of Fragile X. QurAlis, a biotech company in Cambridge, MA, has licensed this discovery and is preparing it for clinical development. - Gene Reactivation (Harvard/Massachusetts General Hospital)
Dr. Jeannie Lee developed a novel CRISPR-based strategy to “wake up” the silenced Fragile X gene by triggering the cell’s natural repair systems. Early work has shown near-complete gene reactivation in patient-derived neurons, a remarkable achievement that could lead to truly curative therapies.
These are remarkable approaches that could one day change the landscape of Fragile X treatment.
Smarter Models for Testing New Fragile X Treatments
To get therapies from the lab to families, we need reliable ways to test them. FRAXA is supporting innovative platforms that make this possible:
- Organoids, or “mini-brains” grown from patient cells, let scientists test treatments in a human-like system. They even allow for personalized research by comparing Fragile X organoids with “healthy twin” organoids from the same individual. FRAXA is supporting multiple research teams who are developing treatment approaches using organoids.
- Live Mouse Tracker (University of Antwerp)
This system uses artificial intelligence to study Fragile X mice in social groups. Instead of single-animal, single-cage studies, it captures natural behavior and speeds up testing of potential drug candidates.
These tools mean better science, faster progress, and more reliable results.
A Turning Point for Fragile X Research
Fragile X research is accelerating. The research community is not just inching forward anymore, it is moving with momentum. Treatments in late-stage trials could soon deliver the first approved options for Fragile X. At the same time, bold new approaches are aiming to correct the underlying cause of the condition.
2025 could be the year we move into a new era of hope and real options for the Fragile X community.
Together, we’re building momentum toward effective treatments and ultimately a cure.
