With Professor David Hessl, Associate Professor Jessica Klusek, Associate Professor Erin Turbitt and Katie Clapp, from a webinar recording on 9 July 2026. Four researchers share what is happening right now in Fragile X research: a new international registry for premutation carriers, what is being learned about the premutation in women, a project changing how families receive a genetic diagnosis, and an update on the clinical trials in the pipeline.

Key Takeaways

• The International Fragile X Premutation Registry is now open to adults with the premutation, their first-degree relatives, and people who may be carriers but have not been tested. It is a partnership between the UC Davis MIND Institute and the National Fragile X Foundation.
• FXTAS diagnostic criteria still in use today were developed in 2003 from a study of 26 men, and research is now questioning whether they describe how the condition presents in women.
• Tremor-related disability in women with the premutation emerges in midlife and progresses with age, according to a longitudinal study following 76 women for up to 11 years.
• The NurtureNextGen project has run six co-design workshops with 31 parents across 24 different genetic conditions, building a digital tool to make genetic diagnosis conversations more balanced.
• FRAXA funds 39 research teams across 12 countries. Two clinical trials reported setbacks this year, and several new trials have started with different drug targets.

The Four Presentations at a Glance

This page summarises a research presentation and is not medical advice. Please talk to your own clinician about anything that affects your family.

A Registry for Premutation Carriers

A registry is a collection of information about people affected by a particular condition. Professor David Hessl explained that registries increase what researchers know, help health professionals improve treatment, and let studies be designed properly. They also make a community, connecting affected individuals, doctors and researchers. The International Fragile X Premutation Registry exists because premutation carriers are not rare, but there are rarely enough people in any one region to power a study on their own. Registering takes place through a secure online portal covering contact details, optional demographics and optional health history. Researchers who want to recruit from the registry must apply to a governance committee, and if approved, information about the study is sent out to registrants, who then choose whether to get in touch.

What Research Is Learning About Women

Associate Professor Jessica Klusek made a point that reframes a lot of what families have been told. FXTAS affects an estimated 16 per cent of women with the premutation, but the diagnostic criteria clinicians still use were developed in 2003 from a study of 26 men. Papers published in 2007, 2009, 2017 and 2022 all describe FXTAS in women as milder, later or less frequent, without rigorous data on women to support it. Her lab’s work suggests the picture is more complicated. Risk does not rise in a simple straight line with CGG repeat length. Tremor-related disability appears in midlife and progresses with age. And factors like education appear to change the risk, which also shows how unrepresentative many research samples have been.

Changing How Families Hear a Diagnosis

Associate Professor Erin Turbitt described how genetic diagnosis conversations still sit inside a deficit-focused medical model, where parents are handed long lists of what their child may never do with little psychosocial support. The NurtureNextGen project is a three-year co-design study building a digital tool to make those conversations more balanced, without discounting the real challenges. The team ran six workshops with 31 parents representing 24 different genetic conditions, using a technique called body mapping where parents draw their emotional experience onto an outline of a body. Two themes came through strongly. The first was weight and load, captured by one parent as “learning how to walk with concrete boots on”. The second was feeling overwhelmed and silenced, then finding a voice, often through a first moment of advocating for their child.

Where the Clinical Trials Stand

Katie Clapp gave an honest account of a mixed year. Two major trials disappointed: Harmony’s CBD gel showed no positive signal, and Shionogi’s PDE4D inhibitor missed its primary outcome measure, though adults did show improvement and the extension phase data is still being analysed. New trials have started with the same and different targets, including a PDE4D inhibitor testing three dose levels, and two competing BK channel opener drugs. BK channel openers are interesting because opening that channel is one of the jobs the Fragile X protein normally does. Other new trials target aggression and neuroplasticity. Alongside the trials, FRAXA is funding gene therapy style work on RNA splicing and FMR1 reactivation, and new research models including brain organoids and a Fragile X sheep.

How to Take Part

• Adults with the premutation, first-degree family members without the premutation, and untested people who may be carriers can enrol in the International Fragile X Premutation Registry at www.fragilex.org/ifxpr
• Registration can be done from home or with assistance in a clinic, and covers consent, contact details, optional demographics and optional health history.
• Registrants receive a newsletter at least yearly with registry progress and research developments, and are never contacted by researchers directly. You choose whether to reach out about a study.
• Families interested in the South Carolina studies on women and the premutation can find details at SCFamilyStudy.com
• Parents who want to be involved in NurtureNextGen can contact the team at nurturenextgen@uts.edu.au
• Current Fragile X trials, including the new aggression and BDNF studies, are listed publicly on clinicaltrials.gov

About the Speakers

Professor David Hessl is from the UC Davis MIND Institute, where he has researched the Fragile X premutation for around 25 years. He directs the International Fragile X Premutation Registry.

Associate Professor Jessica Klusek is from the University of South Carolina. She is a certified speech language pathologist whose research focuses on Fragile X syndrome and the FMR1 premutation across the lifespan.

Associate Professor Erin Turbitt is from the University of Technology Sydney and was the only Australian speaker on the night. She is a social scientist working at the intersection of genomic medicine and decision making, and leads the NurtureNextGen project.

Katie Clapp, MS is Co-Founder and President of FRAXA Research Foundation and a Fragile X parent. Her son Andy, now 37, remains her motivation for the work.

Resources Mentioned

• International Fragile X Premutation Registry
• National Fragile X Foundation
• UC Davis MIND Institute
• FRAXA Research Foundation
• LivJoy Foundation
• NurtureNextGen project, University of Technology Sydney
• South Carolina Family Study
• ClinicalTrials.gov

Fragile X Association of Australia’s webinars are produced with support from Alba Prime and are available on YouTube, Apple Podcasts, and Spotify.