Author: Kristin Bogart

Developing a Protein Replacement Therapy for Fragile X Syndrome

Fragile X syndrome can present challenges for affected individuals and their families. There remains a critical need for curative therapies that can support greater independence and improved future outcomes for people living with Fragile X. While several promising and diverse therapeutic approaches are currently under clinical investigation, they do not address the underlying cause — the loss of Fragile X Messenger Ribonucleoprotein (FMRP), a protein essential for numerous cellular functions. Approaches targeting single FMRP effectors cannot fully make up for FMRP loss and may only address specific symptoms. Therefore, therapies that restore the function of FMRP are essential in the search for a curative therapy.

The Origins of Bowen’s FX Therapeutics

To address this unmet medical need, Bowen’s FX Therapeutics was established in 2024 by our founder, Jeff Parr, grandfather of Bowen, a four-year-old recently diagnosed with Fragile X syndrome. The company is named after Bowen, with a mission to advance curative therapies for him and all people with Fragile X syndrome.

Bowen’s FX is focused on developing a transformative, systemically delivered protein replacement therapy designed to restore FMRP function throughout the body, including the central nervous system. This strategy originated from the laboratory of Professor Ray Turner and his team, including Dr. Xiaoqin Zhan at the University of Calgary. Their research demonstrated that an engineered fragment of FMRP could serve as a viable substitute for the full-length protein, providing the basis for our therapeutic protein replacement program.

The primary therapeutic molecule consists of an FMRP fragment fused to a peptide to facilitate enhanced brain and cellular delivery. This engineered protein is designed to cross the blood-brain barrier and is intended for administration via intravenous or subcutaneous injection, eliminating the need for direct brain injections and minimizing invasiveness.

Preclinical studies have demonstrated the following key outcomes so far:

  1. Restoration of typical protein expression and mitochondrial function in human cellular models of Fragile X syndrome.
  2. Effective brain penetration and neuronal uptake following intravenous administration.
  3. Restoration of typical protein expression in the brain of a mouse model of Fragile X syndrome.
  4. Reduction of behavioral hyperexcitability in a mouse model of Fragile X syndrome.
  5. Recovery of unusual brain activity in a mouse model of Fragile X syndrome, as assessed by electroencephalography, particularly within the gamma frequency range associated with cognitive neural processes.
  6. Improved safety and stability profile, suitable for optimization towards safe human use.

Current Strategy and Research & Development Activities

Bowen’s FX ongoing research prioritizes the identification of the most stable and functional therapeutic variant and optimal drug formulation. The Research & Development team continues to advance engineering and testing efforts to enhance manufacturability, storage, and dosing, while also evaluating the feasibility of subcutaneous delivery methods, such as infusion pumps, to improve the convenience of patient dosing. Our objective is to complete these optimization studies as early as 2026, enabling the selection of a clinical candidate for manufacturing and final safety assessments before initiating clinical trials.

Looking Ahead and Impact in Fragile X

There are still several steps to fully demonstrate that protein replacement with engineered FMRP is safe, effective, and can be conveniently dosed in patients before advancing into clinical trials. Once there, we will apply for special regulatory designations for orphan drugs and rare pediatric conditions that can minimize the timeframe to approval as a Fragile X syndrome treatment. If achieved, our goal is for Bowen’s FX protein replacement therapy to become the first treatment to restore the function of FMRP, improving outcomes across the full range of symptoms that occur in Fragile X syndrome. In doing so, we hope this will allow for greater ability and independence for people with Fragile X syndrome, increasing their connection to family, friends, and society, and improving their overall quality of life.

For more information about Bowen’s FX Therapeutics, please visit our website and our LinkedIn page.

The National Fragile X Foundation attended the 6th International Conference on Fragile X Premutation Associated Conditions, a biennial conference which, this year, took place in Italy. The meeting was attended by over 100 dedicated researchers and clinicians from around the world. Most of the presentations and discussions revolved around developing a better understanding of premutation-related conditions, including FXTAS, FXPOI, and other emerging conditions, in hopes of developing new and better treatments. We were excited to see many familiar faces, meet more Fragile X experts from around the world, and reunite with many past NFXF Jr. Investigators.

The NFXF led a discussion regarding the updating of the family-friendly treatment recommendations for FXTAS. The updated recommendations will be published early next year following input from numerous professionals, patients, and their caregivers. A companion publication for clinicians is also being drafted.
A full report from the conference will be published in the months to come. The NFXF will share more details, impact, and next steps with you then.

Most importantly, each presenter thanked the individuals and families who participated in their research. Without you, we would not be able to make progress and learn more about the Fragile X premutation. Thank you!

View the conference agenda

We’re thrilled to spotlight a major new review article recently published in the New England Journal of Medicine (NEJM) – The Spectrum of Fragile X Disorders by Randi J. Hagerman and Paul J. Hagerman.

This review, written by UC Davis experts, Dr. Randi Hagerman and Dr. Paul Hagerman, illuminates Fragile X-related conditions and simultaneously calls for greater physician awareness and screening of Fragile X-related conditions.

Why does this matter?

Outside of getting this crucial information into public spaces, the New England Journal of Medicine is one of the world’s most prestigious medical journals, with a rigorous peer-review process and a global audience. Publication here means that the Fragile X community—and physicians, researchers, and policymakers—can’t ignore it.

This review is a sweeping update on the family of Fragile X conditions—from full mutations causing Fragile X syndrome (FXS), to premutation-related conditions like Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).

Check out the full review article here: The Spectrum of Fragile X Disorders – NEJM, July 17, 2025, Vol 393 (3), pp 281–288

Read more about Dr. Randi Hagerman and Dr. Paul Hagerman and this review article here.

FACT: The primary resource for Fragile X syndrome research is the FORWARD-MARCH Registry and Database.

a progress thermometer showing 61% Also a fact is we can’t do it without you.

We’re on a mission to enroll 600 participants with FXS born in 2003 through 2020. We’re just over halfway there and need your superhero help to hit our target!

FORWARD-MARCH builds upon the original FORWARD study, the largest U.S. database on Fragile X syndrome that launched in 2012. With funding from the CDC, FORWARD-MARCH has teamed up with your local Fragile X specialty clinic to collect detailed information about FXS kids and young adults.

More participants help ensure statistically significant research results and lessen the risk of biased findings. It also helps generalize the findings. In other words, it can show how the results stack up against peers with conditions like autism and understand common co-occurring diagnoses. For clinicians, a sizable database helps them tackle common FXS medical and behavioral challenges.

The bigger the crew, the better we understand FXS, paving the way for awesome therapeutic and educational programs! Watch this important 90-second message from Dr. Elizabeth Berry-Kravis on why we need families to participate.

Why We Need Families to Participate (90 seconds)

Transcript

FORWARD has really accomplished quite a bit. We have 26 journal publications about Fragile X syndrome from FORWARD data with more papers coming out soon.

Some FORWARD publications have been rolled over into providing the evidence base for family-friendly treatment recommendation documents that are posted on the National Fragile X Foundation website and are great resources available to anyone seeking information about existing knowledge and intervention strategies for people with Fragile X.

These documents are really an important resource for families, educators, and medical providers. This information that we’ve collected informs what we tell families and how we optimize management of patients in the clinic on a daily basis. This helps us:

  • Understand what medical problems are more common in Fragile X so we can screen for them.
  • Provide anticipatory management of sleep and behavior problems if autism is present.
  • Understand when to expect kids with Fragile X to toilet train and when you’re going to need to do extra things to get them to accomplish this.
  • Understand the trajectory of seizures in Fragile X, when will they start, when will they go away?

These are all things that come from the FORWARD project that help us manage families every day. And not only does this research help us with management of patients in clinic, but it also provides a natural history base that is required for us to understand the long-term effects of new disease-targeted treatments and interventions that we are working on developing.

Share This Study

Share our colorful infographic on your social media or email to friends and family:

info graphic for FORWARD MARCH Why the study matters
p. 2 of Info graphic on FORWARD-MARCH

Eligibility

Kids with FXS born between 2003 and 2020 are invited to join the study, including original FORWARD participants and fresh faces!

Buzz your nearest Fragile X specialty clinic or reach out to Amie Milunovich at amie@fragilex.org.

For more details about the study, visit Join FORWARD-MARCH.

In early 2024, the NFXF — in partnership with the Fly With Me fund — awarded funding to three clinics supporting initiatives aimed at reaching underrepresented and underserved communities. The NFXF also launched a survey project focused on exploring the sense of belonging among individuals and families within the Fragile X community.

Since the project’s launch last year, awardee groups have made significant strides in their initiatives. This blog highlights the latest updates from the Belonging Project awardees and showcases the impactful work they’ve been doing in their communities.

“Belonging” — Empowering Families Affected by Fragile X Syndrome

Naterra Walker headshot
Naterra Walker, NP

Clinic: Children’s National Hospital

Principal Investigator: Naterra Walker, NP

Project Update: The team at Children’s National has made significant progress in building awareness and community connection around Fragile X since the start of the year. Highlights include a successful presentation at their institution’s Research Week, where their research assistant showcased the impact of their Education Day and ongoing family support group. The presentation sparked interest in a potential publication, which is now in progress.
The clinic has also worked to strengthen its relationships with community pediatricians, many of whom were previously unaware of the FXS clinic at the institution. At the Future of Pediatrics conference, staff shared educational materials on appropriate genetic testing for developmental delays and autism, leading to new family referrals. Several of these families were people living with the premutation, sparking a renewed focus on addressing the long-term questions and needs of this group. With a newly hired genetic counselor now in place, the team is better equipped to support these families moving forward.

Their family support group, run by the clinic’s social worker, wrapped up this summer and provided valuable feedback. While attendance was sometimes low, survey results revealed that many families were more interested in community resources and support than in formal education sessions. The team plans to shift future events to reflect this preference, balancing information-sharing with more personal, practical support.
Looking ahead, the team is preparing to host its annual community race again, complete with Fragile X-themed hats for participating families. They’re also aiming to continue hosting Fragile X events on a less frequent basis to avoid overwhelming families’ schedules, while still keeping them informed about research, policy updates, and local resources.

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University of Utah and Primary Children’s Hospital Fragile X Clinic Belonging Grant

The Belonging Team headshots.

Clinic: University of Utah and Primary Children’s Hospital

Principal Investigator: Victoria Wilkins, MD, MPH

Project Update: The University of Utah team has continues to build strong momentum in their outreach and engagement efforts, with a special focus on Native communities in Utah and the Four Corners region. One highlight includes their upcoming participation in the Sacred Circle Health Resource Fair on July 25th—an event that previously led to direct referrals and new patient connections. This ongoing relationship with Sacred Circle underscores the value of culturally-rooted, community-based outreach.
In addition to in-person events, the team has been hosting a series of webinars this summer. These webinars are aimed at engaging families and caregivers. A recent session on self-care for people who live with the premutation sparked meaningful conversation, with strong feedback from attendees about future topics. In response, the team is planning a webinar on puberty and behavior, building on past work and collaborating with the NFXF and other expert partners to create polished, widely shareable resources. Another upcoming webinar will focus on behavior management, driven by community interest and team expertise.

Throughout this project, the team is actively collecting data to better understand community needs and impact. These insights will help shape future programming well into the fall of this year. Despite some logistical hurdles, the Utah team remains committed to creating inclusive, supportive spaces where families feel seen, heard, and connected.

Pictured, top to bottom: Dr. Vicki Williams, Fragile X Clinic Director; Britt Gowalty-Weinstock, Fragile X Clinic Coordinator; Raven Sevilleja, Research Assistant

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Leveraging Community Engagement to Advance Access to Diagnosis and Treatment in FXS

Cincinnati Children’s Hospital Medical Center clinic staff.
Cincinnati Children’s Hospital Medical Center clinic staff.

Clinic: Cincinnati Children’s Hospital Medical Center

Principal Investigator: Debra Reisinger, PhD

Project Update: Since the beginning of their project in 2024, the CCHMC researchers have continued to expand outreach efforts, despite a slowdown in training sessions earlier this year. Based on feedback from the 2024 NFXF Conference, the team has shifted focus to broader community connections. This includes partnering with statewide organizations like OhioRISE, a Medicaid care management program, to distribute training materials and brochures to care managers and providers across the state. The goal: ensure more families affected by Fragile X are aware of and connected to available support.

Efforts to build long-term sustainability are also underway. The team is preparing for their annual local family conference and participating in back-to-school events this summer. Encouragingly, they have been written into a new center grant that will allow them to continue DEI-related work after the Belonging grant funding ends.

One of the most impactful outcomes so far has been the direct connection with providers. Many have begun reaching out with cases and feel more comfortable with genetic testing—especially regarding Fragile X permutations, a topic many were previously unfamiliar with. The team continues to prioritize being a go-to resource for providers and families across the state.

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Belonging in Fragile X:  A Survey Addressing Diversity, Equity, and Inclusion in the Fragile X Community

Location: National Fragile X Foundation

Principal Investigator: Hilary Rosselot

Project Update: Earlier this year, we — the NFXF — launched our survey on belongingness and what it means to members of the Fragile X community to belong. After survey collection is completed, at the end of Summer 2025, the NFXF and researchers in Miami will host focus groups for English and Spanish-speaking individuals who want to have more in-depth conversations on what it feels to belong to the Fragile X community.

If you haven’t taken the survey yet, we’d love to hear from you! You can take it (or share it!) in English or in Spanish.

 

Take the Survey

 

 

Hilary Rosselot, Executive Director
Hilary Rosselot, Executive Director
Anna De Sonia
Anna De Sonia, Director of Research Facilitation

Questions?

If you have questions about anything research-related, we’d love to hear from you! You can reach out to Anna De Sonia at anna@fragilex.org.

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The sixth annual July fundraiser benefitting the National Fragile X Foundation (NFXF) at Moshi Moshi in historic Ballard, Seattle, is back again for 2025!

Since 2020 Moshi Moshi has donated a portion of proceeds from sales of their signature Rumi Roll to the NFXF during Fragile X Awareness Month in July. The Rumi Roll is named after its owner, who has family members living with Fragile X, and is made with many of her favorite things including tempura shrimp, kanikama salad, and avocado; topped with seared salmon, unagi sauce, miso mayo and crunchy tempura flakes. Moshi Moshi hosts this promotion every year to help the NFXF support families living with Fragile X through advocacy, education, research and treatment.

Located in the heart of historic Ballard, Seattle, Moshi Moshi is a woman-and-PoC-owned full-service Japanese restaurant. Specializing in sushi, izakaya-style small plates, and innovative cocktails, Moshi Moshi blends authentic flavors with modern twists. With a focus on fresh, high-quality ingredients, Moshi Moshi brings the best of Japanese culinary culture to Seattle’s thriving Ballard neighborhood, complete with an intimate lofted dining space available for semi-private events and a full bar featuring a curated selection of Japanese sake and spirits.

Throughout the month of July, Moshi Moshi will donate $2 from both dine-in and take-out orders of the Rumi Roll. If you’re in the Seattle area and would like to support this fundraising effort, make your dine-in reservation online or order take-out through their online ordering platform.

For questions, email hello@moshimoshiseattle.com or visit their website at MoshiMoshiSeattle.com. You can also follow them on Instagram @MoshiMoshiSushi.

Nancy Carlson and the NFXF Heartland Chapter — Iowa and South Dakota hosted their 10th—and final—Bike To X Out Fragile X on Saturday, June 7, 2025, in Des Moines, Iowa.

The annual event draws many repeat riders and plenty of new ones. it was a gloomy Saturday with 100% chance of rain in the forecast, yet over 50 showed up ready to participate by riding their bicycles. The group met near GoodSons, a local bar with a large patio area perfect for gathering a large group of riders.

A few people “rode” along in their vehicles to partake of the food and beverages along the route. Longtime volunteer, Cameron Carlson, helped by providing rides if any of the participants’ bikes broke down (which luckily did not happen this year!)

The group stopped for lunch on the patio at Exile Brewing Company in downtown Des Moines, IA, and then to another area brewery, the 515 Brewing Company in Clive, where the 100% forecast of rain produced some sprinkles! The riders headed up some hills back to Goodson’s in Des Moines, where they started off that morning.

It was a beautiful day to be on a bicycle and a fitting send-off for the 10th annual and for Nancy and Ken Carlson’s last event!

Thank you again to Nancy Carlson for organizing this event for the past ten years, to this year’s Bike To X Out Fragile X riders and their sponsors:

A group of bikers in front of GoodSons in Des Moines, IA

The U.S. House of Representatives recently passed the House Reconciliation Package (H.R. 1), which includes proposed changes to federal spending programs, including Medicaid. The bill is now under review in the Senate, where it may be amended before a final vote. If approved, it would return to the House and then proceed to the President for consideration.

Medicaid provides healthcare coverage and support services for many individuals, including those with disabilities. Covered services often include therapies, behavioral health care, personal assistance, and home and community-based supports that are not typically available through private insurance.

Budget reconciliation is a legislative process that allows Congress to make changes to spending and revenue laws with a simple majority vote in the Senate. This process is used to align federal funding with policy goals.

Concerns About the Proposed Changes

Although some protections for individuals with disabilities are included in the proposed legislation, several provisions raise concerns.

One proposal would require Medicaid recipients to renew their eligibility every six months. This change could create added administrative work for states and families, possibly leading to coverage gaps if paperwork is delayed or incomplete.

The bill also includes proposed reductions in overall Medicaid funding. If enacted, states may need to reevaluate how they provide services, especially those not federally required, such as Home and Community-Based Services (HCBS). These changes could impact access to care, particularly as more than 700,000 individuals with disabilities are already on waiting lists for services they qualify for.

How to Advocate from Home

Now is an appropriate time to contact your members of Congress and share your experience with Medicaid. Be sure to provide specific and concise details. Here are a few simple steps you can take:

1. Identify Your Members of Congress

2. Email or Call Their Offices

When reaching out to legislators, include your name and address to verify you are a constituent. If you’re emailing, use the contact information or form on their website, or email directly if you have an existing staff contact. If calling, ask to speak with the staff member who handles healthcare or disability policy.

Use the questions below to help shape your message:

  • Why Medicaid is important to you, your family, or your patient community
  • The services you receive through Medicaid
  • How a disruption in coverage would affect you and your family

Sample Message

Hello, my name is [NAME], and I live at [ADDRESS]. I am a [parent, caregiver, clinician, or individual with Fragile X] and am contacting you about Medicaid.

Medicaid helps cover services that support my family, including [list services you receive]. These services are important to [you, your family, or the Fragile X community] because [brief explanation of impact].

I am concerned about the proposal to require Medicaid renewal every six months, which could increase the administrative burden on families and state systems. I am also concerned about the potential for reduced federal Medicaid funding, which could affect access to services that many people rely on.

Please support policies that maintain access to Medicaid for individuals with disabilities and their families.

What to Expect

If you call, a staff member may take note of your message and thank you for your input. If you email, you may receive an automated confirmation. All communications are logged and reviewed by congressional offices.

What Happens Next

Senators are continuing to review and discuss H.R. 1. We will share updates as the process moves forward. If you receive notice of changes to your Medicaid coverage, please let us know at advocacy@fragilex.org so we can keep our partners and policymakers informed.

We’re Here for You

The National Fragile X Foundation is committed to providing accurate information and advocating on behalf of individuals with Fragile X and the broader disability community. Sharing your experience helps ensure your voices are heard during critical policy decisions.

Thank you for speaking up and helping protect Medicaid access for those who rely on it.

In our ongoing effort to advance scientific understanding and treatment research in all Fragile X-associated conditions and disorders, we are sharing information on an available funding opportunity.

Peer Reviewed Medical Research Program (PRMRP)

Peer Reviewed Medical Research ProgramOver $21M has been awarded for Fragile X-associated conditions and disorders research since 2010, when Fragile X was first included as an eligible condition for funding from the Congressionally Directed Medical Research Program (CDMPR) Peer Reviewed Medical Research Program (PRMRP).

Thanks to the efforts of the NFXF advocates, Fragile X, which includes all FMR1-associated conditions and disorders, is once again included as an eligible topic area for Fiscal Year 2025 (FY25).  The PRMRP is within the Department of Defense’s Congressionally Directed Medical Research Programs (CDMRP) — a global funding organization that fosters novel approaches to congressionally targeted biomedical research areas. CDMRP receives annual appropriations that are disease or condition-specific. Congress appropriated $150M in funding for the FY25 budget within the PRMRP.

Since 2010, the NFXF and the Fragile X community have continued to advocate in Congress for policies and research funding for Fragile X-associated conditions and disorders. We have nominated numerous consumer reviewers from the Fragile X community to participate in the peer and programmatic PRMRP review process. The consumer reviewer provides a perspective that is complementary to the scientific expertise and helps the scientist understand the human side of how the research will impact the Fragile X community.

Important Opportunities for Fiscal Year 25

Rare Diseases and Conditions Portfolio: Fragile X syndrome and Fragile X-associated conditions and disorders are included in this category, which was introduced in FY24 and continues in FY25. (Hereditary ataxia is also listed as an eligible condition within the PRMRP, which may offer a potential additional option for FXTAS projects.) Learn more.

Providing Feedback About Research Needs: The NFXF was honored to once again contribute to a strategic discussion with PRMRP program leadership, helping to identify critical research gaps and unmet needs within the Fragile X community. This input was instrumental in shaping the FY25 strategic goals and supports ongoing efforts to drive meaningful progress in research and the development of therapeutic interventions.

Webinar with PRMRP Program Manager: We held a live webinar on May 28, 2025. Watch now.

FY25 PRMRP Funding Opportunities and Mechanisms for Fragile X-Associated Conditions and Disorders Research

Note: Both deadlines have now passed.

  • Clinical Trial Award: Supports the rapid implementation of clinical trials of novel interventions. The preproposal deadline is June 9, 2025, 5:00 p.m. ET.
  • Technology-Therapeutic Development Award: Supports the translation of promising preclinical findings into clinical applications for prevention, detection, diagnosis, treatment, and quality of life. the Letter of Intent deadline is June 9, 2025, 5:00 p.m. ET.

PRMRP FY25 Funding Opportunities

The NFXF Can Help Facilitate Your Research!

The PRMRP program values collaborations between patient advocacy groups and researchers.

The NFXF Research Readiness Program leverages our skills to create meaningful partnerships with all researchers, from initial concept through the dissemination of results. We support our research facilitation mission through the NFXF Research Readiness Program, our services menu, focused projects, and advocacy. We recommend all researchers engage in the program early for support from concept through the conclusion of the research project.

For additional information or to get started, please contact Anna De Sonia at research@fragilex.org.

Little Rhody Warriors families held their second “Fragile X Awareness Walk” X Strides event on May 18th at Goddard Park in Warwick, Rhode Island. More than 50 family members, caregivers, and friends registered online before the event, and together their team has raised over $6,000 this year to support the National Fragile X Foundation.

It was a beautiful day full of fun activities that brought awareness to many about Fragile X syndrome. The group reported a fantastic turnout with the opportunity to meet so many new Fragile X families, and they can’t wait for more opportunities to get together.

Event organizer Marcella Almeida says, “Our little Fragile X community just keeps on growing! We are actively bringing awareness to everyone around us. We were joined by family, friends, teachers and therapists on a beautiful sunny day by the Narragansett Bay! We had toys, food, and a bouncy house donated by local businesses and friends. We can’t wait to see what next year will be like! TOGETHER WE ARE STRONGER!!!”

Are you interested in hosting a get together, walk or other fundraiser for this year’s X Strides? Registration is now open!