First Ever Global Consensus Clinical Care Guidelines for Sanfilippo Syndrome


The first-ever global consensus clinical care guidelines (guidelines) for Sanfilippo Syndrome have been published. RVA Partner Sanfilippo Children’s Foundation (Australia) has collaborated with Cure Sanfilippo Foundation (United States of America), people living with Sanfilippo Syndrome and over 100 clinicians globally to develop and publish the guidelines.

Establishing consensus among medical professionals with expertise in the care of individuals with Sanfilippo on recommended care guidelines is a key step to elevating the care and support for children around the world who are living with Sanfilippo Syndrome.

How were the guidelines developed?

The guidelines were established through a multistage process to arrive at consensus recommendations, with input from more than 100 clinicians around the world with a range of specialist expertise, who have experience in the care of individuals with Sanfilippo Syndrome. Lived experience was integrated through participation of the collaborating Sanfilippo advocacy organisations.

What’s in the guidelines?

Accessible to anyone providing medical care, rehabilitative care, or support services for individuals with Sanfilippo Syndrome globally, the guidelines provide evidence-based, expert-led recommendations and guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. Additionally, the guidelines are a practical resource for families to become well-informed advocates and can be shared with local care teams, who may not have previous experience with this rare disease. 

Topics addressed in the guidelines include: 

  • Symptoms that should raise suspicion for the diagnosis of Sanfilippo Syndrome
  • Methods of establishing the diagnosis
  • Evaluating, monitoring and managing neurological, gastrointestinal, airway, musculoskeletal and the many other complications that may develop
  • Special focus on the evaluation of unexplained pain and distress
  • Rehabilitative therapies
  • Support services 

Download a copy of the guidelines here.

Visit the Sanfilippo Children’s Foundation website for more information about the guidelines.

What are the next steps?

Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation, in collaboration with international Sanfilippo Syndrome organisations, are developing a streamlined version of the guidelines for easy reference and access in multiple languages.