FRAXA Research Foundation

10/28/2026

Rumi Therapeutics will advance RTX-7340, a potential treatment for Fragile X syndrome, under an agreement with Enthorin Therapeutics. The approach builds on research supported by FRAXA.

RTX-7340 targets PDE2A, an enzyme that breaks down chemical messengers important for learning and memory. PDE2 is a different target from PDE4D, the enzyme targeted by Shionogi’s zatolmilast.

FRAXA helped lay the groundwork by funding Dr. Thomas Maurin’s fellowship with Dr. Barbara Bardoni at INSERM in France. Their studies showed that inhibiting PDE2A improved brain-cell function and social interactions in Fragile X animal models. Enthorin also credits FRAXA’s support for helping translate these discoveries into drug development. FRAXA supporters helped make that early research possible.

RTX-7340 is moving toward clinical development. Studies in people will be needed to establish its safety and determine whether it benefits individuals with Fragile X.

Read more about the program and FRAXA’s role in the research behind it.
https://www.fraxa.org/pde2-drug-program-builds-on-fraxa-funded-research/

10/21/2026

Longtime FRAXA-funded researcher Dr. Lynne Maquat will share how her studies of RNA biology led to discoveries about Fragile X syndrome in a free virtual presentation hosted by the University of Rochester.

Her talk will explore nonsense-mediated mRNA decay (NMD), a process that helps cells manage the quality of their genetic messages, and how it becomes disrupted in Fragile X. FRAXA has supported her team through multiple research grants investigating this pathway and its potential as a treatment target.

The presentation is part of Rochester’s Translational Science Grand Rounds series and is geared toward researchers and health care professionals interested in a deeper look at the science.

Thursday, November 12, 2026
12:00-1:00 p.m. ET | Online | Free

Learn more and register:
https://www.urmc.rochester.edu/events/event-detail/54108827393302

10/20/2026

Join us tomorrow for Fragile X Family Conversations!

Wednesday, October 21 at 12:00 pm ET

We’re welcoming Dr. Mike Tranfaglia, FRAXA’s co-founder and Medical Director, as our special guest for Fragile X Family Conversations: Sharing, Learning, Supporting.

Connect with other families and caregivers in a welcoming virtual gathering to share experiences, exchange ideas, and support one another.

Whether this is your first session or you’ve joined us before, we’d love to see you!

There’s still time to register:
https://www.fraxa.org/event/fragile-x-family-conversations-2026-10/

Join FRAXA’s Fragile X Family Conversations on Oct 21 at 12:00 pm ET to connect with families, share experiences, and gain insights on the Fragile X journey.

10/15/2026

There’s still time to join us! Fragile X Family Conversations: Sharing, Learning, Supporting is next Wednesday, October 21 at 12:00 pm ET.

This month, we’re welcoming Dr. Mike Tranfaglia, FRAXA’s co-founder and Medical Director, as our special guest!

Join other families and caregivers for an informal virtual gathering to share experiences, exchange ideas, and support one another. Our team members are parents of people with Fragile X, too, and we know how much it can mean to connect with others who understand.

We’d love to see you there. Register today:
https://www.fraxa.org/event/fragile-x-family-conversations-2026-10/

Join FRAXA’s Fragile X Family Conversations on Oct 21 at 12:00 pm ET to connect with families, share experiences, and gain insights on the Fragile X journey.

10/01/2026

Shionogi has shared an important update on the zatolmilast open-label extension study for Fragile X syndrome.

Following further review and analysis, Shionogi concluded that efficacy measures did not detect a positive treatment signal in adolescents. The company is discontinuing participation for those ages 17 and under. No new safety findings have been reported.

The open-label study remains open for adults. Currently enrolled participants from the adolescent study who are 18 or older by October 31, 2026, may continue without changes or interruptions.

This is a painful setback for affected families and for everyone working toward effective treatments for Fragile X syndrome. We are deeply grateful to the families and participants who have contributed to this research.

At FRAXA we will learn from this experience and use these lessons to advance treatment development and, ultimately, a cure.

Read the full update and Shionogi’s community letter:
https://www.fraxa.org/shionogi-to-end-zatolmilast-open-label-extension-for-adolescents/

Shionogi is ending the adolescent zatolmilast open-label extension for Fragile X. Adult participants may continue. Read the update and community letter.

09/17/2026

Restoring FMRP, the protein missing in Fragile X syndrome, is a central goal of a University of Rochester research project supported by a $200,000 FRAXA Research Foundation grant.

Led by Drs. Lynne Maquat and Christoph Pröschel, the team is exploring circular RNA as a way to help cells produce FMRP. Unlike most viral gene therapy approaches, this approach could potentially allow repeated treatments.

Using lab-grown models of brain tissue made from patient cells, researchers will study differences in FMRP across brain cell types. Their findings could help guide treatments that address the underlying cause of Fragile X syndrome.

This grant is one of many made possible by donors in the Fragile X community. Thank you for supporting research that moves this work forward.

FRAXA-funded researchers explore circular RNA to restore FMRP in Fragile X syndrome, working toward a non-viral treatment that could allow repeat dosing.

08/18/2026

Looking for a place to connect with other families who truly understand the Fragile X journey?

Join us tomorrow, August 14, at 12:00 PM ET for Fragile X Family Conversations: Sharing, Learning, Supporting — a welcoming virtual gathering created exclusively for families affected by Fragile X syndrome.

Whether you're looking for practical ideas, encouragement, answers to everyday challenges, or simply a chance to connect with others who "get it," this conversation is for you.

At FRAXA, every member of our team has a personal connection to Fragile X, and we're honored to help create a space where families can learn from one another and be understood.

Space is limited — register today and join the conversation.

Join FRAXA’s Fragile X Family Conversations on Aug 19 at 12:00 pm ET to connect with families, share experiences, and gain insights on the Fragile X journey.

08/13/2026

Can scientists keep the therapeutic benefits and lose the hallucinogenic effects?

FRAXA has awarded a $100,000 research grant to Clinton E. Canal, PhD, India R. Breuer, and Jason V. Wallach, PhD, to investigate DPT-derived compounds as a potential treatment approach for Fragile X syndrome.

Their previous work found that DPT (a tryptamine-based molecule) can suppress seizures in a Fragile X mouse model through mechanisms separate from those responsible for hallucinations. Now, the team is designing and testing new non-hallucinogenic compounds to identify candidates that may reduce seizures and improve learning and memory.

The research will also help determine which brain receptors are most important to these effects, providing direction for future drug development in Fragile X syndrome.

This grant is one of many made possible by the families, donors, and supporters who continue to invest in Fragile X research.

FRAXA researchers are developing DPT-based compounds designed to reduce overactive brain activity without hallucinogenic effects in Fragile X syndrome.

08/07/2026

Calling all families navigating the Fragile X journey! Join us on Wednesday, August 19 at 12:00 pm ET for Fragile X Family Conversations: Sharing, Learning, Supporting. This exclusive event is a space just for families and caregivers to connect, share experiences, and offer each other support.

These sessions provide unique opportunities to brainstorm with others who truly understand the daily challenges of Fragile X. With every member of the FRAXA team personally connected to Fragile X we’re here to offer a welcoming community where families can feel seen, heard, and hopeful.

Space is limited – register now to reserve your spot!

Join FRAXA’s Fragile X Family Conversations on Aug 19 at 12:00 pm ET to connect with families, share experiences, and gain insights on the Fragile X journey.

07/24/2026

🩵 Thank You to Our Awareness Partners (Part 3 of 3)! 🩵

Today we'd like to recognize and thank these Awareness Partners for supporting World Fragile X Day 2026:

✨ Connecta Therapeutics
✨ autifony Therapeutics
✨ enthorin Therapeutics

Because of partners like you, World Fragile X Day 2026 reached hundreds of communities around the globe, raising awareness for Fragile X syndrome and showing individuals and families they are not alone.

Your partnership helped turn a single day into a worldwide movement. The lights may have dimmed, but our gratitude shines as brightly as ever.

From all of us at FRAXA Research Foundation, thank you for your commitment to the Fragile X community and for helping advance both awareness and research.

Together, we're lighting the world for Fragile X. 🌍