Sanfilippo Children’s Foundation (Australia), Cure Sanfilippo Foundation (USA) and our sister organisations around the world are delighted 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.
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 and cognitive decline. There is no treatment or cure currently available and most individuals with Sanfilippo never reach adulthood.
In developing this research Roadmap we drew on the expertise of clinicians, researchers, industry leaders, family-led organisations and families from around the globe.
The Roadmap celebrates the significant advances that have been made to date in Sanfilippo research and the clinical trials that 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 could be accelerated through a focussed, coordinated and collaborative approach.
The Roadmap aims to facilitate this by setting out the key research pillars and enablers around which the research community can coalesce.
Through detailed interviews with the Sanfilippo community and a review of the scientific literature and clinical trials landscape to date, we developed a comprehensive picture of not only what has been achieved so far, but also the barriers and limitations that are holding us back.
The information we gathered was distilled into a clear picture of the key research themes, the gaps and opportunities, the blockers that need removing, and the resources that are needed to help move the field forward.
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 this is a research Roadmap, the families’ voices have been incorporated into all stages of its development. Their 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 much sharper focus.
Now, with the Roadmap in hand, Sanfilippo patient organisations from around the world will be coming together to focus attention on their shared priorities. We will bring together round-tables of industry and other stakeholders to discuss what data and tools can be shared to accelerate progress for everyone. And we will convene researchers from all research fields to spark innovative new ideas and collaborations to seize the opportunities and push back the barriers.
Thank you to everyone who had a hand in bringing this Roadmap 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 maximise their development and quality of life.
The Executive Summary is also available in French, Spanish, Portuguese, German and Polish