FX News Summer 2025
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FXAA Summer Newsletter To our members and friends, Thank you for your support this year. Together, we’ve supported families and individuals living with Fragile X to be connected, included, understood and empowered to live their best possible lives.
Dr Lawrie Bott is our new President and you can get to know Lawrie by reading an interview with him on page 9. We have also welcomed two new Board members, Mike Miceli and Phil Eastbury, both members of FXAA.
We hope you enjoy this bumper edition of our newsletter full of inspiring stories, a look back at 2025 and what’s in store for 2026.
Stay involved in 2026 There are lots of ways to stay connected and support FXAA:
We profile information resources we’ve been working on and some opportunities you can get involved in. There’s an update on the Fragile X Adults & Ageing project, and an overview of clinical trials underway to explore treatments for symptoms associated with Fragile X syndrome and FXTAS. There’s also a focus on information resources on Fragile X-associated conditions FXTAS and FXPOI.
• • • • • • •
Looking ahead to a new school year in 2026, there’s a list of resources that will be helpful for educators as well as parents on supporting the learning style associated with Fragile X syndrome.
Become a member, if you're not a member already (membership is free) Donate or set up a regular gift Fundraise through an event, club or workplace Volunteer your time or expertise share your story Join us at a Disability Expo (Expo calendar page 27) Follow us on social media Share our webinars and resources, and encourage others to learn about Fragile X
Together, we’re working for a future where people living with Fragile X are connected, included, understood and empowered.
Thank you to those who were able to join us at the recent Annual General Meeting, and congratulations to the recipients of the annual Achievement Awards which were presented at the AGM. Our Annual Report is now available online, and we encourage you to take a look. We pick up some highlights here in this newsletter. At the AGM we warmly farewelled outgoing President, Cynthia Roberts, who is now focussing on supporting her son into independent living. Cynthia has been connected with FXAA for close to 30 years and has made a wonderful contribution to FXAA over that time. Read more on page 8.
Thank you for being part of this community. Remember you can keep up to date with our ongoing news on our social media and website right throughout the year. Have a wonderful holiday season, and we look forward to connecting with you again in the New Year. Warm regards, Wendy, Liz and the FXAA Board
Photo credits: Cover, page 2 and back cover– portaints by Daniel Linnet for Fragile X Association of Australia Fragile X Association of Australia Inc. Registered office: Suite 204 20 Dale Street, Brookvale NSW 2100 ABN 18 655 264 477 www.fragilex.org.au HelpLine: 1300 394 636 2
Looking back on 2025 Raising the Fragile X voice
We’ve achieved a lot together over the last 12 months. Our 2024/25 Annual Report shares everything in more detail, but here are the highlights.
Advocacy is central to our work. Over the past year FXAA has:
Standing alongside families
• Represented the Fragile X community through groups such as Rare Voices Australia, Neurological Alliance Australia, the Down Syndrome Australia Disability Representative Organisation consortium of organisations representing people with intellectual disability, the National Centre of Excellence in Intellectual Disability Health, and Fragile X International
Our Helpline and counselling and peer connection work remains at the heart of FXAA. Over the past year, Family Support Counsellor Liz Jewell and Executive Director Wendy Bruce have: • Provided phone, online and face-to-face support to individuals and families around Australia
• Presented at and profiled Fragile X at major conferences including the Human Genetics Society of Australasia Scientific Meeting, and the Australasian Society for Intellectual Disability and developmental disability nurses conferences
• Facilitated peer groups for:
Parents with a new Fragile X diagnosis Carers of adults with Fragile X syndrome People with FXTAS and their partners Young women with Fragile X syndrome Parents of young or older children navigating challenges
• Continued to push for: Clearer and more timely pathways to Fragile X testing and diagnosis Better access to genetic counselling for people tested or screened for Fragile X Improved understanding by GPs of reproductive genetic carrier screening for Fragile X, CF and SMA
• Met families in person at events and Expos across the country, creating important chances to talk and connect Liz has also delivered practical “Fragile X 101” sessions for schools, disability providers and community organisations, helping staff better understand and support the children or adults with Fragile X syndrome in their care.
We are also involved in a range of research projects so Fragile X is included in national conversations on newborn screening, primary care genomics, onset of dementia for people with intellectual disability, health pathways for young adults with intellectual disability and our own research study on the health & wellbeing of adults with Fragile X syndrome as they age.
Learning together – webinars, videos and podcasts Our webinar program continues to grow as a key support and education resource. In 2025 we delivered 13 webinars on a range of topics related to Fragile X syndrome and Fragile X premutation associated conditions, such as: • • •
• • • •
Educating professionals who support our community We’ve continued to commit time and energy to education for health, education and disability professionals.
First steps after a diagnosis of Fragile X syndrome Understanding the Fragile X-associated Tremor Ataxia syndrome (FXTAS) What you need to know about Fragile X-associated Premature Ovarian Insufficiency (FXPOI) Supporting behaviours, sensory needs and learning at home and school for children with Fragile X syndrome IVF and Pre-Implantation Genetic Testing for carriers for Fragile X Social stories and visuals to support routines and transitions for children with Fragile X syndrome Planning for the future: Microboards, Estate planning, Special disability trusts
Highlights include: • Healthed GP education days in Melbourne, Adelaide, Brisbane and Sydney – reaching around 12,000 GPs and primary care professionals • Teaching sessions for genetic counselling and genetic studies students and speech pathology students, alongside families or individuals sharing lived experience • Attendance at disability expos around the country, connecting with service providers and families and showcasing our Fragile X information resources
Most sessions are now available as videos and podcasts, so families, educators and health professionals can watch or listen in their own time and share with others.
• Commenced development of free e-learning resources for the disability support and aged care workforce supporting adults with Fragile X syndrome.
• Our growing library of webinars, videos and podcasts is now being used by many professionals for training and professional development. 3
Looking back on 2025 Fragile X Care | Adults & Ageing with Fragile X syndrome
Community, fundraising and World Fragile X Day Our community has been busy – and creative – in raising funds and awareness.
Our Adults & Ageing work is the first Australian study to explore the health, wellbeing and support needs of adults with Fragile X syndrome as they grow older. The foundations of the study were laid in 2024 through two national surveys of parents/carers and disability support providers and interviews with experienced health professionals in Australia and overseas.
Fundraising highlights Manly Wharf Bridge to Beach marked its 12th year supporting FXAA. Since 2014, this charity partnership has raised around $180,000 to help fund our Family Support Counsellor role. Many thanks to Dean Gardiner and team at Oceanpaddler for their commitment to FXAA. Events across the country – including football and netball club rounds, dance awards, community garden open days and fun runs – have raised vital funds and awareness.
Our collaborator in this work is the Centre for Disability Studies, an affiliate of the University of Sydney. This year we:
A raffle conducted by construction company Built together with JAC Motors, launched in November 2025, offers a JAC T9 4x4 ute as first prize and raises funds to help us support and connect Fragile X families. Read more on page 26.
• Analysed findings showing high support needs in daily living, mental health and communication – and significant gaps in access to behavioural support, health services, psychology and counselling
World Fragile X Day – 22 July
• Held a validation workshop at the University of Sydney with parents, carers and support & service providers to test and refine recommendations
2025 marked the 5th year of the World Fragile X Day coordinated by FRAXA Research Foundation and the 10th year of “lighting up” in Australia:
• Had the first academic paper published, with more on the way
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126 landmarks lit up orange across all states and territories • Australia contributed to a global total of 557 landmarks taking part • Families braved cold, wet nights to see the lights, take photos and share stories on social media.
• Started work on developing e-learning resources for support teams to help them better support people with Fragile X syndrome in their care. We’re working with the Centre of Excellence in Intellectual Disability Health to develop these evidence-based resources which will launch in mid-2026.
Thank you to everyone who helps make World Fragile X Day such a powerful and visible moment each year.
This study has been generously funded by a grant from the Henroth Group and is guided by our Lived Experience Expert Panel and Steering Committee.
Explore resources on •
Fragile X syndrome
•
Fragile X premutation
www.fragilex.org.au
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Achievement Awards 2025 Each year the highlight of the Fragile X Association of Australia Annual General Meeting is the presentation of Achievement Awards. This year’s AGM was no exception. The Achievement Awards are intended to acknowledge and celebrate individuals for their personal achievements and to inspire others. Congratulations to everyone who was acknowledged in this special way at the AGM on 23 November 2025. Many thanks to Awards ceremony co-hosts Rosie Donald and Liz Jewell.
Josiah Tozer Josiah was nominated by his parents, Helen and Mike Josiah has made incredible progress this year, showing growing independence, perseverance, and a great sense of humour. He now wears his headphones when things get noisy, helping him stay calm and engaged in busy environments. At home, he has learned to empty the whole dishwasher with minimal prompting. One of the highlights of the year was completing a 7.5km family bike ride, keeping up with everyone and finishing with a huge smile. Josiah has transitioned to and from school on the bus with easy and greets the bus driver. He makes us laugh every day with his quick wit and joyful spirit — we’re so proud of how much he’s achieved.
Logan George Logan was nominated by his mother, Trich Logan has been doing amazing things this year. He was successful in gaining his Learners Permit and completing some of the competencies on the way to obtaining his full Drivers License. Logan is still a little while off and lots of practice is required but he is gaining confidence each and every day. Logan and his Hockey team were minor premiers this year. They made it into the Grand Final, however this year were unlucky and lost the Grand Final. However, last year they did win and that was wonderful for all the players! We are so proud of Logan and all his accomplishments.
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Achievement Awards 2025 Joshua Lawrence-Slater Joshua was nominated by his parents, Charlotte and Adam Joshua is graduating from year 12 at St Lucy's school. He is a joint school captain, an important leadership role at the school. He has done an excellent job representing the school when they have VIP's visit and for other ceremonies and events. Joshua is also part of their music and arts program. He is a talented performer and enjoys being a member of the percussionistas and the St Lucy’s Wiggles band. We are very proud of the man that he has become and can't wait to see what's next.
Ben Kalenjuk Ben was nominated by his mother, Sharon Ben has had an outstanding year with his involvement in athletics, taking on new challenges. For the first time he was part of the Australian team for the 2025 Virtus World Athletics Championships in Brisbane. This event is purely for athletes with intellectual impairments and/or autism, and representatives from 30 countries were involved. This was Ben’s first ever international event and first time competing in the T21 Open Triathalon - he came away with a silver and an Australian record for points in a triathalon. He then broke the Australian record in 100m T21 Open with a time of 13.35, and ran the T21 Open 200m with 28.11, for a second silver medal. In total Ben took on 5 events and came away with 5 medals (4 silver, 1 bronze) and 4 PBs. We’re so proud of his hard work and achievements and look forward to seeing what more he will do.
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Achievement Awards 2025 Rubyrose Campbell-Phillips Rubyrose was nominated by her grandmother, Margaret Rubyrose has done very well at school this year we are all very proud of her achievements. Rubyrose has done a lot of fabulous art and she writes amazing stories at school. She has come a long way. Rubyrose loves her dancing with the aboriginal culture. She enjoys it very much. We are very proud of her dancing group.
Tom Colgrave Tom was nominated by Wendy Bruce Tom has done a tremendous job in developing skills in communication and independence since leaving school and starting work in his small business Backyard Releaf, with his work partner Dyl. Backyard Releaf offeres small-scale garden services to residents and businesses in the Launceston area. Tom has learned so much about handling equipment and starting and completing a wide range tasks of garden maintenance tasks. He is an absolute whiz with a mower and really gets the job done! Tom’s proud to wear his Releaf uniform and thrilled with his work vehicle which he and Dyl use to get from job to job. Tom has also been helping out the local community, donating his time to help with garden maintenance jobs that need doing. Tom’s family and friends are super proud of Tom!
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Thanking wonderful volunteers Cynthia Roberts, outgoing FXAA President Dr Cynthia Roberts PhD is a trained geneticist and ran a clinical cytogenetics service in NSW particularly focusing on prenatal testing and worked at Genea as both Genetics Director and Chief Risk Officer.
ple events— Healthed Education Days for GPs in Melbourne and Sydney, the International Menopause Congress in 2024, the Human Genetics Society of Australasia Scientific Meeting in 2025, Genetic Alliance forums over the years, and at Disability Expos in Melbourne and Sydney. Cynthia has represented FXAA in numerous discussions and submissions on policy matters associated with Fragile X syndrome and the Fragile X premutation—with the Health Department, the government’s newborn screening policy team, representatives from the Pharmaceuticals Benefits Advisory Committee, and the NDIA. Cynthia has been involved in FXAA’s ongoing discussions with pharmaceutical companies around clinical trials for treatments for Fragile X syndrome. She has hosted FXAA’s webinars, been involved in our Scientific Clinical and Research Committee, and played a key role in our Fragile X Care | Adults & Ageing study. On top of that—Cynthia has raised significant funds for FXAA by taking on the Sydney CitytoSurf Fun Run year on year, most recently as team leader and chief tutu maker.
Cynthia’s involvement with FXAA stretches back over 25 years, since the time her now-adult son, Daniel, was diagnosed with Fragile X syndrome. At that time FXAA was in its early years, entirely run by volunteers. Cynthia was active from the get-go, joining the Committee and contributing her professional expertise, her skills and energy. She delivered presentations about Fragile X testing and FX-associated conditions at a range of forums, updated the website, wrote newsletters, and hosted board meetings in her workplace. Cynthia has been deeply involved in advocating for advances in testing and screening for Fragile X. She co-wrote a successful submission to government for Medicare funding of Pre-Implantation Genetic Testing (PGT). Later Cynthia was involved in the successful advocacy by FXAA and other groups for Medicare funding of reproductive genetic carrier screening for Fragile X, cystic fibrosis and SMA.
In short, Cynthia is a powerhouse. In the words of many, Cynthia’s leadership, passion, commitment and deep knowledge has been deeply appreciated and will be greatly missed.
As a parent, Board member and President Cynthia has represented FXAA and the interests of our members at multi-
Thank you, Cynthia!
Daniel Linnet, Photographer Daniel Linnet celebrates people living with Fragile X through his remarkable ability to capture special moments in time. Daniel’s photography over several years has sensitively captured families and individuals in the Fragile X community. His work provides FXAA with wonderful images we use widely for celebration and to improve understanding and awareness of Fragile X. Amongst many other international and Australian awards, Daniel is an Australian Institute of Professional Photography Master Photographer. Most recently he photographed Nicky and Dan.
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Meet Lawrie, FXAA’s new President
What are your priorities for FXAA over the next couple of years?
Here’s your chance to get to know Dr Lawrie Bott, our new President. Lawrie has been a Board member since December 2024 having recently retired as Chief Medical Officer of Sonic Healthcare Australian Pathology. Lawrie has been involved with issues relating to Genetic Pathology testing, including Fragile X, and advocacy to government.
Firstly, ensure that the organisation is well run, as it presently is, and effectively uses the precious funds that we receive to help the Fragile X community. It’s important that we raise sufficient funds to support our activities and I will actively support these endeavours. I believe that an important role of FXAA is to increase awareness of Fragile X and its associated conditions, particularly amongst the medical community.
Lawrie, tell us a bit about yourself and your connection to Fragile X?
We also must be a conduit for education and support for the Fragile X community, including being at the cutting edge of new information and discoveries that will help people living with Fragile X and its associated conditions.
It’s hard to know where to start but I am a doctor by profession and worked as a pathologist all my life. I‘ve spent my career committed to quality medicine and patient care for all Australians and from 2021 to 2023 was the President of the Royal Australian College of Pathologists.
What gives you hope when you think about the future for people living with Fragile X?
I am married with a very tolerant wife and have five wonderful children ranging from 45 to 16 years old.
I draw hope from the fact that medical advancements and treatments that are occurring in healthcare, in time, may assist people living with Fragile X. I also draw hope that we as a community, with increasing awareness, will improve the support structure for people living with Fragile X.
My pastimes are painting, genealogy and gardening. I had a sporting youth but now only play occasional golf and do that exceedingly badly but still enjoy it! What drew you to FXAA and the Board?
How can members and families best support the work of FXAA?
I have a Fragile X premutation and early signs of FXTAS. When I was diagnosed with this, I joined the organisation. With my medical background, I was drawn to help the organisation through being on the Board and as my mother would say “Make myself useful!”
Being part of the organisation is important and encouraging others to join the organisation. Fundraising and volunteer activities are available for those that can be part of them. Participating in the education activities, particularly the many How would your family describe you? webinars that are held, increases understanding and awareness and is important. Also, when given the opportunity with family, Hopefully, fun to be with, loving and hard working. I’d like to think that I create “good memories” for my family. I’m the family friends and others, be an advocate for FXAA and the Fragile X community. genealogist which always gives me stories to tell immediate and extended family.
Lawrie (second from left) with his family. 9
Building Knowledge
Understanding FXTAS Fragile X-associated Tremor Ataxia syndrome (FXTAS) is a late onset neurological condition which can affect some Fragile X (FMR1) premutation carriers, with higher incidence among male than female carriers. The onset of FXTAS generally occurs after 50 years of age. The three areas affected by FXTAS are: 1) movement, 2) mental health, and 3) the nervous system. 1 Symptoms include gait ataxia or intention tremor (or both) along with features of progressive cognitive decline , neuropathy, and malfunction of the autonomic nervous system. 2
It’s important to note “Not everyone with a Fragile X premutation develops FXTAS; and not everyone with FXTAS will have the same symptoms or the same severity of symptoms. Someone with FXTAS may only have some of the symptoms while others might have many. About 40% of men with a Fragile X premutation develop FXTAS […] Women who carry a premutation can also develop FXTAS. Their symptoms may be milder or may differ from those seen in men. Up to 17% of women with a premutation may develop FXTAS. The lower risk is because they have another X chromosome with a normal number of [CGG] repeats. ” 2
In September 2025 specialist neurologist Dr Alex Fois presented a comprehensive discussion on FXTAS covering: * the role of the FMR1 gene in FX-associated conditions * cause of FXTAS * what is known about the incidence and onset of FXTAS * the type and variability of symptoms * how symptoms may be different amongst men and women * diagnosis of FXTAS * therapies/treatments that may help with symptom management. During the webinar Dr Fois highlighted several resources including: (1) the REFERENCES listed below (2) Parkinson’s UK Exercise Toolkit – a web-based resource with video workouts of varied intensity, chair-based aerobics and balance exercises to help people stay active at home. https://www.parkinsons.org.uk/information-and-support/stayingactive-home-parkinsons-your-toolkit About Dr Fois: Dr Alex Fois BSc (Adv; Hons I, Medal) BM BCh(Oxon) | MRCP FRACP is a neurologist based in Sydney and practices at Harbour Neurology Group (North Sydney), Macquarie University Hospital, and Fraser Coast Neurology (Hervey Bay, Queensland). Dr Fois has a subspecialty interest and training in movement disorders including Parkinson's disease, tremor, ataxia, dystonia, and in the injection of botulinum toxin for the treatment of neurological symptoms. He is passionate about using telehealth to extend the reach of neurological care in Australia and sees patients from all over Australia. dralexfois.com.au/
REFERENCES 1
The Spectrum of Fragile X Disorders. Authors: Randi Jenssen Hagerman, M.D. and Paul J. Hagerman, M.D., Ph.D. Published July 16, 2025. N Engl J Med 2025;393:281-288. DOI: 10.1056/ NEJMra2300487. VOL. 393 NO. 3 Available open access online. 2
Men’s Health and the Fragile X Premutation: A Guide for Carries, Caregivers, and Health Professionals. Authors: Matthew Walsh, Prof Stephanie L Sherman. Emory University School of Medicine, Georgia US. Available in full online and as pdf to download.
PEER SUPPORT AND CONNECTIONS FXAA’s Family Support Counsellor Liz Jewell offers small curated peer support sessions for individuals who have a diagnosis of FXTAS or their carers. These are held on Zoom and last for approximately 1 hour. Times and dates are set to suit the people joining a session. This can be an opportunity to make connections and share experiences in a supportive environment with others who understand. If you have an interest in joining a FXTAS Peer Support session please contact Liz: liz@fragilex.org.au If you are looking to find a neurologist who has an interest or experience in supporting people with FXTAS, please get in touch with Wendy or Liz: support@fragilex.org.au 10
Building Knowledge Understanding FXPOI Fragile X-associated Premature Ovarian Insufficiency (POI) (FXPOI) is a condition in which the ovaries stop functioning normally before the age of 40 years for a female with the Fragile X (FMR1) premutation.
premutation develops FXPOI. FXPOI occurs in up to 30% of female Fragile X premutation carriers. A person’s genetic make-up (including CGG repeats in the range of 70-100 repeats), low estrogen levels and environmental factors including social factors contribute to the symptoms experienced and health risks for women.
FMR1 premutation is the most common single genetic disorder linked with POI. FXPOI leads to increased risk of menopausal symptoms and increased risk of a range of health conditions.
Diagnosis of POI can be delayed where symptoms or risk factors are not recognised. A multi-pronged approach in managing symptoms and health issues is recommended.
It’s important to note that not every female with the Fragile X
In March 2025 specialist neurologist Dr Amanda Vincent presented a comprehensive discussion on FXPOI covering: * new International Guideline Recommendations on POI * what is normal for menstrual cycles and menopause * what is POI? and what is FXPOI? * cause of FXPOI * risk factors for FXPOI, including CGG repeat range * symptoms and impacts * how to manage FXPOI for your health and wellbeing * if you have FXPOI—what are the essentials? * fertility issues associated with FXPOI * where to seek help about FXPOI During the webinar Dr Vincent profiled (1) NEW RESOURCES on POI for women and health professionals (2) FIND A HEALTH PRACTITIONER DIRECTORY of the Australasian Menopause Society. About Dr Vincent: Clinical A/Prof Vincent, MBBS, BMed Sci, PhD, FRACP is a clinician researcher combining clinical practice in menopause with menopause related research, translation and education. She is lead endocrinologist in the Menopause and Menopause Oncology clinics, Monash Health, Clayton (Vic) and is Head, Early Menopause Research, Monash Centre for Health Research and Implementation (MCHRI), Monash University. A/Prof Vincent co-chaired the international guideline group to update the POI guideline. She is past President of the Australasian Menopause Society, board member of the International Menopause Society and has authored numerous publications.
RESOURCES International Guidelines on Premature Ovarian Insufficiency https://www.eshre.eu/Guidelines-and-Legal/Guidelines/Premature-ovarian-insufficiency The MCHRI website links to a range of Early Menopause and POI Resources. Access the link below OR scan the QR code: https://mchri.org.au/guidelines-resources/community/ask-early-menopause-resources/ Resources include: • Booklet and Fact Sheets on Premature Ovarian Insufficiency • Patient version of 2024 International POI Guideline • Ask Early Menopause App Website with FACT SHEETS for consumers and health professionals and a FIND A PRACTITIONER DIRECTORY www.menopause.org.au/find-a-practitioner/
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Research Matters CLINICAL TRIALS
FXTAS: The UCDavis MIND Institute in California has announced that Prof David Hessl will help lead a major 5-year research project in the US to develop better ways to measure treatments for FXTAS. The MIND Institute, which discovered FXTAS 25 years ago, notes that one of the roadblocks to testing potential treatments is a lack of widely accepted validated outcome measures for clinical trials. This study will enrol 100 people with FXTAS across 3 US sites, use tools to track progression of symptoms, develop & test a new version of a rating scale which helps doctors measure changes over time, and create a protocol and system basis for future clinical trials. Prof Hessl says “There are likely to be new medicines soon, including gene therapies, that could help slow down or even stop the disease. We want to be ready”. Read more: MIND Institute website
Fragile X syndrome: Advances in understanding the genetic and molecular mechanisms of Fragile X syndrome continue to offer hope for future treatments. Research is exploring gene therapies to reactivate the silenced FMR1 gene, restoring FMRP protein production, and targeted drugs to address symptoms like anxiety and hyperactivity. Clinical trials are testing medications that regulate mGluR5 receptors, and personalised medicine may provide more effective, individualised care. Although these treatments are experimental, ongoing research and clinical trials do offer optimism for improving the quality of life for those living with Fragile X syndrome. We acknowledge the disappointment for many in the Fragile X community and for the Harmony Biosciences research team stemming from the recent news that the RECONNECT study did not meet its primary endpoint.
Fragile X syndrome Treatment Trials Update
published in 2022. Details are not clear about the current status of the project. O Harmony Biosciences (Zynerba) RECONNECT Trial 0 Prof Randi Hagerman from UCDavis MIND Institute and The Phase 3 RECONNECT trial of ZYN002 in Fragile X Canadian collaborators have finished a Metformin trial and their syndrome did not meet its primary endpoint of improving social positive results are pending publication, according to personal avoidance in participants, citing a higher-than-expected placebo communication. response. The RECONNECT Study was a Phase 3 randomized, O Dr. Jeannie Lee ’s FRAXA-funded project aims to reactivate double-blind, placebo-controlled, multiple-centre study, to the silenced FMR1 gene in Fragile X syndrome by using a assess the efficacy and safety of ZYN002, a pharmaceutically novel R-loop-based gene editing approach by inducing the cell’s manufactured cannabidiol administered as a transdermal gel to natural repair mechanisms to remove the abnormal CGG repeat patients with FXS ages 3 to under 30 years old. A total of 215 expansion and achieve near-complete gene reactivation in pamale and female patients, ages 3 to < 30 years, were tient-derived neurons. Prof Lee is Vice Chair of the Department randomized 1:1 to receive study drug or placebo during an 18of Genetics at Harvard Medical School. week treatment period. Doses of treatments were weight-based. O Dr. Joel Richter's team found that the FMR1 gene, which was The primary endpoint for the RECONNECT Study was change thought to be completely silenced in Fragile X syndrome, is from baseline to week 18 in the ABC-CFXS Social Avoidance actually active in most individuals, producing a version of its subscale score in patients with complete methylation (≥90%) in RNA which does not function normally. This discovery led the the FMR1 gene. Key secondary endpoints included change from team to the idea of designing antisense oligonucleotides (ASOs) baseline to week 18 in the ABC-CFXS Irritability subscale score to target this RNA to treat Fragile X syndrome, to correct this in patients with complete methylation (≥90%) in the FMR1 gene. splicing error and restore production of the missing protein. Further analysis will soon be reported. The study had been Funding by FRAXA Research Foundation has been provided to running in Australia, and the US. Richter’s lab and to QurAlis and Quiver Biosciences, both Boston biotech companies, to collaborate to refine this O Shionogi's large Phase 3 trial of zatolmilast is expected to therapeutic approach. Prof Richter is based at UMass Chan report results soon including progress on the EXPERIENCE Medical School. clinical development program (Evaluation of Fragile X O Dr. Ray Turner and colleagues at University of Calgary are Experience in Cognition Expression) in the US. The evaluation phase of two clinical trials conducted in the US. working to treat Fragile X syndrome by replacing small portions of the FMRP protein connected to a cell permeable "tat" — EXPERIENCE-301 (in the adult male population, 18-45) and EXPERIENCE-204 (in the adolescent male study population, ages peptide. This FRAXA-funded project has shown promising 9-17) — have been completed as planned. A small pilot trial had results in restoring normal EEG activity in FX mutant mice and may eventually be applicable to humans. showed safety and improved cognition, which had led to the large trials. The analysis and validation phase that includes a KEEP UPTODATE ON CLINICAL TRIALS & RESEARCH detailed evaluation of primary and secondary has begun and a Subscribe for updates: www.fraxa.org/ summary should be forthcoming in the near future. and see https://clinicaltrials.gov/ O FRAXA Research Foundation has funded a Canadian project that aims to test the safety and synergistic effect of Lovastatin and Minocycline combined treatment in patients with Fragile X Prof W Ted Brown, syndrome. The hope is to improve behaviour in individuals with Vice-President FXAA Fragile X syndrome. A pilot project showing positive results was November 2025 12
Research Matters This is a Registry (database) of adults with the Fragile X premutation, and family members who don’t have a Fragile X premutation, to facilitate research that could positively impact quality of life. The International Fragile X Premutation Registry was created in partnership with an international advisory committee of dedicated Fragile X professionals and patient advocacy organisations (including a representative from Australia). WHO CAN JOIN: Fragile X premutation carriers and noncarriers related to someone affected by Fragile X are invited to enrol. Registrants must be 18 years or older.
PARTICIPATION: As a registrant you are not directly contacted by researchers. You would be only be sent IRB-approved materials after review and approval from the governance committee about the potential project. It is your choice whether or not to contact the researcher. YOUR DATA: No data is given to researchers or pharmaceutical companies. Data entered by registrants is only used to understand opportunities that are relevant to the registrant, such as sending FXPOI opportunities to only those females with FXPOI in the registry.
HOW TO ENROL: Completing the Registry survey online by responding to questions about your contact details, demographic and basic medical / health information. This should take about 30 minutes. AFTER YOU ENROL: Participants receive annual updates about research developments in this field, and you may also be contacted by the IFXPM Registry team about research studies they may be eligible to participate in, including future treatment studies. MORE INFORMATION ABOUT THE REGISTRY: More specific details about the Registry, the data collected and the research opportunities that may arise are on the website of the National Fragile X Foundation. This includes a video presentation by Dr David Hessl, the director of the Registry. Prof Hessl is a clinical psychologist specializing in neurodevelopmental disorders, and has had a long-term interest in FXTAS and the FX premutation generally.
ENROL IN THE REGISTRY
MORE INFORMATION ABOUT THE REGISTRY
Scan QR code OR access link below
Scan QR code OR access link below
redcap.ucdmc.ucdavis.edu/redcap/ surveys/?s=X4RDLY79PADMLCRK
fragilex.org/research/ premutation-registry/
Research Study Fragile X FMR1 premutation carriers Invitation to participate in a continuing study in Australia of clinical and metabolic markers of a risk of FXTAS STUDY AIMS: Dr Danuta Loesch and her team in Melbourne are conducting a collaborative study which aims to identify clinical features, such as tremor or balance problems, and blood molecular biomarkers, in adult male and female premutation carriers. This data set is pivotal in assessment of the risk of developing Fragile X-Associated Tremor Ataxia syndrome (FXTAS) with the increasing age. A very important aspect of this study is to assess the differences between males and females with respect to these biomarkers, which will help identify future treatment and prevention targets.
For Victorian participants, the testing can be conducted at La Trobe University, Bundoora campus, or in your home if preferred. For participants from NSW, ACT or QLD, we may organise/support travel to Victoria or organise testing in one of the medical facilities local to you. This study, which has had a long history of funding by the US National Institutes of Health is in collaboration with Prof Randi Hagerman and her team at UC Davis California and has received La Trobe University and UC Davis ethics approvals.
PARTICIPATION: To reach the goal of our study it is critical to collect data from a large number of men and women who are premutation carriers and over the age of 50.
CONTACTS FOR FURTHER INFORMATION: Chief study investigator for Australia Dr Danuta Loesch (pictured) 0407 687 145 d.loesch@latrobe.edu.au
Participation involves a single face to face session of approximately 2.5-hours duration. In addition to a chat, completing 2 questionnaires, and assessment of your movements and higher cognitive abilities, we would like to collect a blood sample if you agree.
Research Assistant Anna Atkinson 0404 058 818 13
Making Connections My Not So Fragile X World … new book out soon! Hi Everyone. My name is Melissa Barker, and I’m a mum to a wonderful nine-year-old boy named Oliver, who will be turning ten this coming April.
The book is currently in the illustration stage and we are excited to share it with families, educators and therapists once it is published and printed in 2026
Oliver has already taught us more about resilience, joy and unconditional love than we ever imagined. When he was diagnosed with Fragile X Syndrome, it brought a mix of clarity and uncertainty, but it also introduced us to an incredibly supportive community and a deeper purpose.
Our hope is simple: to spark understanding and remind others that children with Fragile X are capable, vibrant, and deserving of every opportunity to shine. Thank you to the Fragile X community for walking alongside families like ours.
As we’ve journeyed through school transitions, therapies, celebrations and challenges, we’ve learned how important it is for others to truly understand neurodiversity.
We are honoured to share our story and continue advocating together.
That desire to educate and advocate has inspired a children’s book I’ve written, called My Not So Fragile World.
Follow the progress of My Not So Fragile X World at Ollidore Books:
The story follows Oliver through everyday experiences, showing Facebook and Instagram and www.Ollidorebooks.com.au his strengths, emotions and the beautiful way he sees the world. It encourages empathy, acceptance and inclusion, helping children and adults learn that everyone communicates, connects and thrives in different ways.
Around Australia with the Eastburys! Phil and Leighee Eastbury and their boys Hayden and Jake have been travelling around Australia for the past year or so. Wonderful adventures from Newcastle, to the far north of Australia, across to the northwest, making their way down the coast of WA, through South Australia, Victoria and the ACT. They’ve been meeting up with members of the Fragile X community all along the way. Hayden is an ABC Studio super fan, and he would love to be a weather presenter on ABC News one day! Hayden’s been determined to visit every ABC Studio the family comes across in their travels and so far he has visited 18! He’s a legend within the ABC and beyond. Hayden’s dad Phil has written a recount of their travels—the adventures, the challenges, the support and friends they have found on the way, and the way both Hayden and Jake are thriving with exposure to new experiences. We’re looking forward to sharing more about the Eastbury family travels on our website soon.
Keep an eye out on our website!
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Building Knowledge
Supporting the Fragile X learning style RESOURCES FOR EDUCATORS, PARENTS & SUPPORT TEAMS
A recognised and well-researched learning style is associated with Fragile X syndrome. When the strengths and challenges inherent to the cognitive profile of Fragile X are recognised— and when appropriate accommodations are made in a learning environment – children & adults with Fragile X syndrome will have successful learning outcomes from childhood right through adulthood. Our library of videos, podcasts & other resources will help parents, educators & support teams put in place strategies to for success in any learning setting.
Understanding the Fragile X learning style and making appropriate accommodations to support that style is essential for successful learning outcomes.
LEARNING ENVIRONMENT
How can you structure a learning environment to account for the challenges AND capitalise on the strengths associated with Fragile X syndrome?
OVERVIEW The neurobiology of Fragile X syndrome and consequent developmental delays, anxiety and sensory sensitivities associated with Fragile X require active accommodations, planning, and management to achieve success in daily living and learning.
Strategies for success will include: • Predictability and routine • Choices • Structured tasks • Calming strategies • Managing transitions • Time for sensory diets and movement • Accommodating sensory sensitivities • Strong and consistent use of visual aids, and more.
However, alongside this, it’s important for educators and support teams to know that children and adults with Fragile X syndrome have many strengths which, when harnessed, will facilitate successful learning.
KEY RECOMMENDED RESOURCES
The daily living challenges for many individuals who have Fragile X syndrome are wide-ranging. Such as: FX-associated anxiety/hyperarousal, short-term memory & attentional control, hyperactivity, weaker executive function, sensory processing problems, developmental delays and, for most males with Fragile X syndrome, intellectual disability. For females, anxiety/hyperarousal, masking and avoidant behaviours can present challenges.
On our youtube & podcast channels and website • • • • •
Some individuals with Fragile X syndrome may exhibit behavioural problems such as repetitive actions, outbursts and difficulty with socialising. A diagnosis of autism spectrum disorder may also apply for around 60% of males with Fragile X, and fewer females.
The cognitive profile of Fragile X syndrome Education strategies to support people with FXS Lifetime of learning & Fragile X Classroom adjustments to support students with FXS Top Tips for Educators about Fragile X
www.fragilex.org.au EDUCATORS KNOWLEDGE HUB
Learning strengths associated with Fragile X syndrome can facilitate successful learning outcomes. Strengths include: good long-term memory, associative learning ability, responsiveness to high-interest materials and modelled behaviours, and a learning style that is highly visual and has more success with learning “the whole” rather than “the parts”.
The Educators Hub on our website provides an outline of the learning style with Fragile X syndrome and brings together links to many resources we recommend: • THE ESSENTIALS— What you need to know Short videos, podcasts & downloadables • DEEP DIVE - Develop a deeper understanding Webinar & workshop recordings, podcasts, and other resources providing more comprehensive information for families, educators and support teams.
It’s important for educators and support teams to understand that while females with Fragile X syndrome are typically differently affected than males, they may also experience FX-associated anxiety/hyperarousal, some developmental delays, executive functioning difficulties, difficulty with abstract concepts, low muscle tone and sensory processing problems. A presentation on Females and Fragile X syndrome presented by psychologist Dr Marcia Braden in 2024 is highly recommended for educators and support teams.
We’re proud to work with psychologist and educator Dr Marcia Braden to develop resources which support an understanding of the behaviours, anxiety and learning style associated with Fragile X syndrome. Dr Braden is internationally recognised as the pre-eminent specialist in learning and behaviours associated with Fragile X syndrome. Dr Braden is based in the US.
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Building Knowledge Fragile X Care | Adults & Ageing This year we continued to lead the first Australian study exploring the health, wellbeing and support needs of adults with Fragile X syndrome as they age. The project is a three-year collaboration with the Centre for Disability Studies (affiliate of the University of Sydney) and the National Centre of Excellence in Intellectual Disability Health (the Centre). The purpose of the work is to build an understanding of the health & wellbeing of adults with Fragile X syndrome as they grow older, and an understanding of support needs and gaps. A key outcome of the study will be evidence-based elearning resources for the disability and aged care workforce to increase their knowledge of support needs and appropriate support strategies for adults with Fragile X syndrome in their care. Progress to date:
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A validation workshop to test and refine emerging findings and recommendations held at the University of Sydney in August 2025, bringing together family members, clinicians, disability providers and peak bodies.
We are beginning to share insights with the wider Fragile X community and intellectual disability sectors. Our approach and early findings have been presented at forums including Australasian Society for Intellectual Disability, HGSA, the developmental disability nurses conferences, and the 2025 conference of the Centre, with a focus on what other communities can learn about adults ageing with intellectual disability and complex needs. Writing of a series of academic papers is now underway, with the first published in early December 2025 in the peer-reviewed International Journal of Developmental Disabilities. The paper brings together the findings from a series of interviews with health experts experienced in Fragile X.
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Two national surveys – one completed by parents and caregivers, and one by disability and aged care support Looking ahead:– the e-learning resources for disability and aged teams, to understand health, daily living, service access and care support professionals will launched in mid 2026. future-planning needs.
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Detailed analysis of these survey findings, highlighting high levels of support needs in daily living, mental health and communication, and significant gaps in access to behavioural support, psychology and other services.
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Interviews with Australian and international clinicians and allied health professionals with decades of experience in supporting adults with Fragile X syndrome
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Acknowledgements This work would not be possible without the generous grant funding provided by the Henroth Group, whose support enables us to undertake this landmark work.
We sincerely thank A/Prof Mary-Ann O’Donovan and the team at the Centre for Disability Studies for their tireless work and partnership; our Lived Experience Panel – Megan Levy, Brent Colgrave, David Nicoll and Cynthia Roberts, who have guided Ongoing discussions with adults who have Fragile X every step, from survey design to interpreting findings; and the syndrome (and with parents and caregivers) about priorities, team at The Centre working on our e-learn resources. concerns and hopes for the future.
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Looking back on 2025 Health Professional Forums One of our key goals is improving health professionals’ understanding of Fragile X-associated conditions. Many thanks to Dr Manocha and the Healthed team for giving Fragile X a strong profile at seven GP Education Days in 2025 reaching 12,000 primary healthcare providers. In 2025 we presented initial findings from our Fragile X Care | Adults & Ageing at scientific and research forums. Another highlight: our FX Family Support Counsellor Liz and FXAA member David were invited to present to speech pathology students at the University of Sydney, talking about communication supports for people with Fragile X syndrome.
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Looking back on 2025 Fantastic fundraising in different parts of the country this year! We celebrated the 12th year of charity partnership with the annual Manly Wharf Bridge to Beach paddle race across Sydney Harbour. The Fragile X Round by Ellinbank Football & Netball Club and the Ballarat Dance Awards in Victoria celebrated Fragile X. In south west WA the 7th Bullys Campout event for pre-65 hotrods and custom classics was another fabulous event, and raised funds for FXAA.
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Looking back on 2025 World Fragile X Day, 22 July This day celebrates people living with Fragile X and their families, and highlights advances in research for treatments and care. An incredible 126 Australian landmarks shone orange for Fragile X on 22 July 2025.
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Looking back on 2025 More highlights. Catching up with our members in Perth, Melbourne and Sydney and being part of the celebrations for International Day of People with Disability at Parliament House in Canberra.
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Looking back on 2025 Disability Expos. We had the opportunity to have FX booths at Expos in metropolitan and regional areas. Fantastic to meet up with everyone in Canberra, Melbourne, Newcastle, Sydney, the Gold Coast, Perth, Hobart, Toowoomba, Launceston and Brisbane.
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Looking back on 2025 Disability Expos give us a chance to connect with our members and meet service providers who are supporting people with Fragile X syndrome. Through these connections we can offer support, information and education about Fragile X.
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Looking back on 2025 More Disability Expos! Many thanks to the FXAA volunteers who come along to visit or help out on our FX booths.
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Art Competition for Adults with Intellectual Disability
Health Matters! art competition is now open.
The competition is free. It is open to non-professional artists who: • are 18 years or older • live in Australia • identify as having an intellectual disability
This art competition is part of a research project the Centre for Disability Studies (University of Sydney) is leading with the National Centre of Excellence in Intellectual Disability Health. The project is about health research: finding out what people with intellectual disability think matters most in health research.
You can use any type of art you like. This could be: • Painting or drawing • Sculpture • Music or dance Entries Close • Writing 15 January 2026 • Digital art • Other kinds of art
The artworks people create will help the research team understand their ideas about health research. This information will help them set national health research priorities for people with intellectual disability. There will be some prizes for 1st place 2nd place 3rd place
Selection will be people’s choice. This means artwork which people vote for.
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MORE INFORMATION https://cds.org.au/art-competition/ or danielle.carey@sydney.edu.au
Fundraiser
Built X JAC Ute Raffle for Fragile X The team at Built Australia is rallying behind the Fragile X community, in honour of Built employee Jason D’Amico and his boys.
PRIZES Prize 1 - JAC T9 Oasis 4x4 Dual-Cab Ute including
Partnering with JAC Motors Australia to offer a JAC T9 4X4 Ute as first prize, major Australian construction company Built launched the raffle in November 2025.
NSW registration and metallic paint valued at $47,001 drive away
Prize 2 - Travel Associates holiday voucher valued at $3,000
Funds raised through the sale of raffle tickets will help FXAA deliver its mission to help people, like the D’Amico family, living with Fragile X to be more connected, included, understood and empowered to live their best possible lives.
Prize 3 - Hisense 85" Q6QAU 4K QLED Smart TV (2025) 85Q6QAU valued at $1,995
Prize 4 - Good Food restaurant voucher valued at $1,000
$50 a ticket capped at 5,000 tickets Tickets available NSW residents only. Ticket sales open until 24th March 2026 unless sold prior.
T&C: Lic No: GOCAU/2633. Open to NSW residents only over 18+. Tickets available at $50 each. Closes 5:00pm AEDT 24 Mar 2026 (or earlier if sold out). Full T&Cs available at https://shoutforgood.com/ fundraisers/built-x-jac-ute-raffle-for-fragile-x
Jason and Tim Polorotoff at the raffle launch at Built
https://bit.ly/BuiltJACRaffle 26
Looking to 2026 WEBINAR PROGRAM 2026 Our FX webinar program for 2026 will kick off in late February. Over the course of the year we’ll offer webinars on a range of areas associated with Fragile X syndrome and the Fragile X premutation. Dr Jonathan Cohen will be back to cover health issues for adults with Fragile X syndrome, and to run a presentation and Q&A on Fragile X premutation-related health. Dr Marcia Braden will join us for more Q&A sessions. Other presenters will address planning for the future for a family member with disability. Look out for program details — FX Webinars tab at www.fragilex.org.au
DISABILITY EXPOS
Many thanks to the Social Impact Institute team for supporting our presence at these events.
Making Connections & Building Awareness Expos are an important opportunity for us to be on the ground talking to disability service providers about Fragile X syndrome. We hear about the services and supports in different metro and regional areas, and we talk about the e-learn resources we’re developing for service providers to improve understanding of the health, wellbeing and support needs of adults with Fragile X syndrome. Expos also give us a great chance to catch up with our members!
We’re also looking forward to taking our FX booth to Townsville, in Far North Queensland for the first time, in the Regional Disability Expo series. As a large regional hub the city of Townsville has a significant disability support community, and our Family Support Counsellor Liz is keen to make connections there with service providers and families. Interested in helping out on a booth at an Expo near you? If you can spare a few hours with us, making connections and talking about Fragile X, please get in touch with Liz or Wendy at support@fragilex.org.au
We’re all set to have a FX booth with the 2026 Social Impact Institute Expos in 2026 in Adelaide, Brisbane, Canberra, the Gold Coast, Melbourne (central and SE Melbourne), Newcastle and Sydney (Homebush and Liverpool).
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