Now available: A Global Roadmap For Sanfilippo Syndrome Therapies

February 8, 2022

Sanfilippo Children’s Foundation (Australia), Cure Sanfilippo Foundation (USA), and other Sanfilippo patient-advocacy organizations around the world are proud to launch the Global Roadmap for Sanfilippo Syndrome Therapies.

The Roadmap has a single purpose: to drive research towards effective therapies and better outcomes for families affected by Sanfilippo syndrome.

“The Roadmap aims to capture the historical landscape of research and clinical trials, the gaps that we currently see which are limiting progress, and ways in which we can move forward to address them collaboratively. Notably, we have done this through the lens of impact on the patients and families who are affected,” said co-developer Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation.

“We hope the Roadmap creates a level understanding of the evolving state of science regarding Sanfilippo at this time and where work needs to be done to better address those gaps with a patient-centered mindset,” said O’Neill.

How the Roadmap was created

Sanfilippo syndrome is a rare genetic condition, a devastating childhood dementia, that causes progressive brain damage and debilitating long-term impacts on the body. Symptoms include hyperactivity, disordered sleep, loss of speech, mobility and eating abilities as well as cognitive decline. There is currently no treatment or cure available and most children with Sanfilippo never reach adulthood. Learn more about Sanfilippo.

Development of this research Roadmap drew from the expertise of clinicians, researchers, industry leaders, family-led patient advocacy organizations, and families from around the globe.

The Roadmap celebrates the significant advances that have been made to date in Sanfilippo research, as well as the clinical trials which are providing many families with opportunities for treatment and hope for the future. However, there is still much work to be done to allow every individual with Sanfilippo access to effective therapies and progress can be accelerated through a focused, coordinated, and collaborative approach.

The Roadmap aims to facilitate acceleration of effective therapies by setting out key research pillars and enablers around which the research community can coalesce.

Detailed interviews with the Sanfilippo community and a review of the scientific literature and clinical trials landscape to date were used to develop a comprehensive picture of what has been achieved so far, as well as the barriers and limitations holding back research.

The information gathered in the Global Roadmap For Sanfilippo was distilled into a clear picture of the key research themes, the gaps and opportunities, the barriers that need to be removed, and the resources that are needed to help move the field forward.

Key focus areas of the Roadmap

The research pillars of the Roadmap focus on how to STOP Sanfilippo at its root cause, how to TREAT the underlying impact of the disease on the brain and body, and how to better MANAGE symptoms and improve quality of life for individuals and families living with Sanfilippo today.

The research themes are all underpinned by a set of enabling initiatives, resources, and infrastructure – including data, research tools and collaborative platforms – that could support multiple aspects of research along the entire therapy development pipeline.

While it is a research Roadmap, the voices of the families have been incorporated into all stages of its development. The families’ clarity on what they would like to see come out of the research and the areas they felt had been neglected to date brought the Roadmap into a sharper focus.

How the Roadmap will affect change

Now, with the Roadmap in hand, Sanfilippo patient organizations from around the world can more effectively come together to focus attention on their shared priorities.

Cure Sanfilippo, Sanfilippo Children’s, and the other Roadmap collaborators intend to bring together round-tables of industry and other stakeholders to discuss what data and tools can be shared to accelerate progress for everyone. Researchers from all research fields will convene to spark innovative new ideas and collaborations to seize the opportunities and push back the barriers.

A note from Roadmap creators

Thank you to everyone who had a hand in bringing this Global Roadmap For Sanfilippo to life. We hope that you will all join us in travelling this Road together to ensure that every individual diagnosed with Sanfilippo can access an effective therapy and maximize their development and quality of life.

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