Sanfilippo Children's Foundation

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Sanfilippo Children's Foundation

Sanfilippo Children's Foundation has ceased to operate as a separate entity. No family should ever have to face a devastating diagnosis. But there is hope.

Permanently closed.

It's mission is now carried forward by Childhood Dementia Initiative: www.childhooddementia.org Sanfilippo Syndrome is a rare, genetic form of childhood dementia causing fatal brain damage. Most children never reach adulthood and there is currently no cure or treatment available. Every year around five children are born with Sanfilippo in Australia, with around 2000 children born globally. Hope fo

r breakthroughs in medical research. Hope that effective treatments will be found. Hope for a world without Sanfilippo syndrome. The Sanfilippo Children’s Foundation drives research for a world without Sanfilippo syndrome. We fund innovative and groundbreaking work to hopefully cure the disease, halt its progression, reverse damage and improve the quality of life for childrens battling this condition. The Foundation works in partnership with international Sanfilippo organisations and patient advocacy groups to progress and shine a light on the incredible work underway across the globe, and make this information accessible to researchers, families and the broader medical community. Our cause is urgent and we are determined to reach our purpose. Our priority – with your support – is to accelerate more research and support and advocate for families affected by Sanfilippo.

14/07/2025

We have an update on the progress of the gene therapy for Sanfilippo syndrome type A developed by Ultragenyx (UX111). The FDA in the USA has been considering whether UX111 should be given regulatory approval and was expected to give a decision next month. Over the weekend, we received some disappointing news: there has been a delay.

The paperwork submitted to the FDA includes not only all the data from the clinical trials relating to the safety and effectiveness of the gene therapy, but also detailed plans on how the gene therapy will be manufactured and quality-controlled once approved. The FDA has asked for more information related to manufacturing facilities and processes before it makes a decision. Manufacturing gene therapies is complex, so it is important to ensure the gene therapy product is consistently safe and effective.

Unfortunately, this may take several months to address and then the FDA has a further 6 months to give a decision on approval of UX111. This delay is very disappointing because it is urgent to get this treatment to children as soon as possible. Ultragenyx is doing everything they can to address the FDA’s request for further information, and in this letter to the Sanfilippo community, they say that the issues raised are “readily addressable and we have already addressed many of them”. You can see this letter here: https://www.childhooddementia.org/getasset/1ZTK7L

Advocates around the world are continuing to work together to ensure the FDA understands the urgency of this approval. We also note that FDA approval does not mean that Australian patients will be able to access the gene therapy, it will need to be approved by the Australian regulatory authorities (TGA) and reimbursed through the PBS. It can typically take several years for a drug to become available in Australia after it is approved overseas.

Please note: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Childhood Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy.

11/07/2025

👟Join Steps For Skye This August with Childhood Dementia Initiative 👟

Five years ago, 2 incredible carers decided to turn their love into action. Teghan and Bree care for Skye, who lives with Sanfilippo syndrome.

Their challenge? Walk 15,000 steps every day for a month.
The result? Over $100,000 raised and counting! 💜

This August, they're calling on YOU to join them. Every step you take helps fund critical research, care, and advocacy for children like Skye who face childhood dementia.

📅 When: August 1-31
🎯 Goal: 15,000 steps daily
💪 Impact: Real change for families facing childhood dementia

Ready to make your steps count? Sign up now and be part of something extraordinary.
https://www.childhooddementia.org/event/steps-for-skye

Please note: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Childhood Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy.

10/07/2025

BIG NEWS: Dementia Initiative has launched the Childhood Dementia Online Community for families.
For too long, families facing childhood dementia have felt isolated. Now, parents have a dedicated, private space to connect with others who truly understand.
This community was co-designed with parents to ensure it meets real needs - a place to share challenges and achievements, exchange practical resources, and most importantly, find connection with families walking a similar path.
Currently available to Australian families, we're planning global expansion in late 2025. International families can join our list to be notified when the community becomes available in their region.
Learn more and join: https://www.childhooddementia.org/families-and-carers/online-community

Please note: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Childhood Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy.

01/07/2025

Childhood Dementia Initiative is very pleased to share the launch of a suite of information and support resources for families facing childhood dementia.

The Childhood Dementia Guide for Families offers useful tools, compassionate support, and real-life guidance from parents who have faced childhood dementia.

Resources range from a letter on hope and information to help make sense of a child’s diagnosis, to practical tools for healthcare appointments. These include forms to capture and share important information with doctors and specialists, tips on asking important questions during appointments, and information on healthcare rights.

This is just the first phase of these resources. There are more to come.

👉Our work to create systemic improvements so that parents don't need some of these resources continues. But for now, parents urgently need this support. We are proud to deliver this Guide and deeply grateful to all of the parents who have so far contributed to its contents.

⭐Please share these with any families who you think may benefit from them.

https://www.childhooddementia.org/families-and-carers/family-guide

Please note: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Childhood Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy.

27/05/2025

This image is of a truly special ‘long table’ consultation Childhood Dementia Initiative recently held in Brisbane, Australia.

What you’re seeing is parents of children with dementia sitting in the centre of the room at the table as the experts - experts in their children, their children's conditions, their families, and their experiences navigating health systems. They were not moderated or facilitated, just invited to share and reflect on the issues most important to them in conversation together.

Seated around them in complete silence are health professionals and stakeholders participating through deep listening. No Q&A, no interruptions at any point - just pure, respectful listening to amplify family voices.

The Long Table method creates genuine, respectful space for families to share their insights. Everything they brought to the table will contribute to improving care and support services, ensuring children and families can access equitable, quality care.

Thank you to every brave parent who shared their story and to those who listened with such respect and openness.

Please note: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Childhood Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy. Learn more about this change here: https://www.sanfilippo.org.au/blog/important-update-on-the-sanfilippo-children--s-foundation

22/04/2025

Join us on 15 May for an important webinar on interim findings from 4 pioneering research projects. Two years after receiving support from Australia's Medical Research Future Fund (MRFF), researchers are ready to share their progress.

Here's a breakdown of the research projects that will be discussed:

🟠Developing Nanoparticle Mediated Gene Transfer for Childhood Dementia. (Focuses on Sanfilippo syndrome.)

🟠Developing a comprehensive CSF and plasma biomarker panel for childhood dementia therapies. (Applied to all childhood dementia conditions, including Sanfilippo syndrome.)

🟠A new substrate reduction strategy to treat multiple childhood dementias: Glucosylceramide synthase-targeting antisense oligonucleotides. (Relevant to Sanfilippo syndrome.)

🟠Developing an mRNA-based gene therapy strategy for Niemann-Pick Disease Type C1: a blueprint to treat childhood dementia. (Can offer future blueprint for gene therapies across all childhood dementias.)

There will be some technical information shared, but you don't need a science background to attend, and there'll be opportunities to ask questions and discuss these exciting projects.

Register here: https://events.humanitix.com/mrff-webinar

Please note: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Childhood Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy. Learn more about this change here: https://www.sanfilippo.org.au/blog/important-update-on-the-sanfilippo-children--s-foundation

17/04/2025

Did you know speech and language changes are often the first signs of many childhood dementia disorders? These changes are crucial indicators of disease progression and treatment response.

FREE EDUCATIONAL SESSION FOR HEALTH & CARE PROFESSIONALS

Join us for the next online Childhood Dementia Community of Practice Project Echo® session on Thurs 1 May. Our upcoming topic is The Importance of Speech and Language in Childhood Dementia.

The Community of Practice was established by Childhood Dementia Initiative to offer health and care professionals:

✅ Professional development

✅ Access to emerging evidence-based tools & resources

✅ Opportunity to connect with experts and peers in the field

✅ A way to contribute to a world-first knowledgebank improving children's lives globally

It takes just one hour every second month, and is completely online.

Register now at: https://www.childhooddementia.org/health-professionals/community-of-practice

👉Please share this opportunity with health professionals in your network.

Please note: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy. Learn more about this change here: https://www.sanfilippo.org.au/blog/important-update-on-the-sanfilippo-children--s-foundation

17/03/2025

WEBINAR: Please join us for this webinar on the groundbreaking report, State of Childhood Dementia in Australia 2024, this Wednesday, 19 March 1 pm AEDT.

We will cover:
-The state of research, healthcare and support
-The experiences of impacted families
-A pathway to meaningful change for children and families

Led by Childhood Dementia Initiative CEO, Megan Maack, this session will conclude with an interactive Q&A.

👉Register here: https://events.humanitix.com/webinar-state-of-childhood-dementia-in-australia-2024
We look forward to welcoming you on the 19th.

PLEASE NOTE: Sanfilippo Children’s Foundation has ceased to operate as a separate entity. Sanfilippo Children’s Foundation’s mission will be carried forward by Childhood Dementia Initiative, the organisation established to advocate for all children with dementia through research, care, and policy.

Learn more about this change here: https://www.sanfilippo.org.au/blog/important-update-on-the-sanfilippo-children--s-foundation

Please join us on Facebook here: https://www.facebook.com/childhooddementiainitiative

15/01/2025

We have significant news: Over the past 11 years, together with you, we have made remarkable strides in advancing research and giving hope to families affected by Sanfilippo syndrome. However, like many small, rare disease organisations, we are facing financial challenges that make it increasingly difficult to sustain our operations in their current form.
After careful consideration, our Board is today sharing that Sanfilippo Children’s Foundation’s mission will be carried forward by the Dementia Initiative.
As a result, the Sanfilippo Children’s Foundation will cease to operate as a separate entity.
Childhood Dementia Initiative was established by our founder and former CEO, Megan Maack (formerly Donnell). Megan’s experience as a parent of two children with Sanfilippo ensures that the needs of our community remain at the forefront.
While our journey is entering a new chapter, our vision is unchanged. This transition will bring us even closer to a world without Sanfilippo. We have more information for you here: https://www.sanfilippo.org.au/blog/important-update-on-the-sanfilippo-children--s-foundation

19/12/2024

**Breaking news** Ultragenyx submits application to the FDA for its type A gene therapy

We are thrilled with this morning's announcement Ultragenyx has submitted a Biologics License Application to the FDA seeking accelerated approval for its gene therapy to treat patients with Sanfilippo Type A.

This day has been years in the making. Sanfilippo Children's Foundation invested in the development of this gene therapy when it was owned by Abeona and brought a clinical trial to Australia to provide treatment to Australian children. To see it finally reach this point is incredibly rewarding and has only come about because of the commitment and efforts of the Sanfilippo community. The FDA will now review the application to determine whether the gene therapy is safe and efficacious and can be approved for use outside a clinical trial. This process may take 8-12 months.

The prospect of a treatment approval in 2025 is incredibly hopeful for families around the world, and would open the pathway to approval for other therapies for different subtypes and other MPS diseases.

The team at Ultragenyx has genuinely taken this program forward with passion, inclusivity and advocacy on behalf of the entire Sanfilippo community and we are immensely grateful to them for their leadership, courage and commitment to all families battling this devastating condition.

11/12/2024

NOW RECRUITING: Study into speech and language in Sanfilippo

Researchers at Murdoch Children's Research Institute - MCRI in Melbourne, Australia are commencing a study into speech and language in Sanfilippo syndrome (MPS III).

They are recruiting individuals with a genetically confirmed diagnosis of Sanfilippo type A, B, C, or D. Individuals must be over 6 months of age, verbal or non-verbal, and at any stage of disease progression. Anyone around the world can participate in this study!

The study involves:
🗣️ Online surveys
🗣️ A 1-hour session with a qualified Speech Pathologist (in-person or online via Zoom)

Understanding the speech and language skills of individuals with Sanfilippo syndrome can support earlier diagnosis, develop targeted therapies and provide outcome measures for clinical and drug trials.

See our website for more information on how you can participate: https://www.sanfilippo.org.au/blog/study-into-speech-and-language-in-sanfilippo

05/12/2024

FRIDAY FACTS... How much do you know about the childhood dementia, Sanfilippo Syndrome? Know the facts about this catastrophic condition and learn how organisations like ours are driving research for a world without Sanfilippo syndrome.

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Our Story

This family-founded, research-focussed foundation is being launched by Megan Donnell, mother to two children with an extremely rare disease. Tragically, Isla (4 years.5) and her little brother Jude (2 years.5) were both recently diagnosed with a fatal genetic disorder called Mucopolysaccharidosis III (MPSIIIA), otherwise known as Sanfilippo Syndrome. Isla was diagnosed in May 2013 and in a devastating blow Jude’s diagnosis came just four weeks later! There is currently no cure or effective treatment available to Isla and Jude, nor the estimated 40–50 other Australian families affected by Sanfilippo Syndrome, and there are new cases diagnosed every year. The disease has particularly devastating consequences as children lose mobility, speech and develop dementia-like symptoms. Life expectancy is just 12-20 years. Children appear healthy at birth but begin to show signs of the disease onset is typically from the age of five. But all hope is not lost! Jude and Isla live on the Northern Beaches in Sydney with their parents Allan and Megan, who, tragically both carry the recessive gene for the condition, which occurs in approx. every 70,000 live births in Australia. Globally, there has been great recent progress made in ground-breaking and pioneering medicalthe area of treatments for patients with Sanfilippo and there is real promise for a cure. It is exciting to also note that these therapies have the potential for a far broader reach of future use in other central nervous system related pathologies, such as Alzheimer’s and Parkinson’s disease. This has been in the pioneering areas of intrathecal enzyme replacement therapy (ERT) and gene therapy. Much of this progress is due to the tireless efforts of foundations and biotech companies established by families—just like ours—with the objective to pioneer treatments within accelerated timeframes. Unfortunately, there is virtually no access to the established research programs for Australian patients here in the “lucky country”. With your help the Sanfilippo Children’s Foundation aims to enable international collaboration and provide access to life-saving treatments for Australian children affected by this disease. With your help, Megan and Allan hope to raise awareness of Sanfilippo Syndrome in the medical world, wider community and ultimately drive the science towards human trials that will one day lead to a cure.