In October 2022, the first ever global consensus clinical guidelines for Sanfilippo syndrome clinical care were published in the scientific journal OrphanNet Journal of Rare Disease.

Having a rare disease means that most doctors and healthcare professionals will not have ever seen a person with Sanfilippo syndrome in their career. Furthermore, they have lacked clear guidance in making decisions about the timing and referral for medical monitoring and specialist care for children with Sanfilippo Syndrome. This publication removes the guesswork.

The development of the Guidelines was led by Cure Sanfilippo Foundation (USA) and Sanfilippo Children’s Foundation in collaboration with a global panel of clinicians with expertise in Sanfilippo syndrome care. 

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 with Sanfilippo Syndrome. This first-of-its-kind set of consensus recommendations provides guidance on which symptoms should be monitored, through which tests, how frequently and how they should be managed.

Publication in a scientific journal means that the contents of this document have been reviewed and approved by medical and scientific professionals in the field.

Please share this freely available document with anyone involved in your child’s care.

What is in the guidelines?

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 develop
  • Special focus on the evaluation of unexplained pain and distress
  • Rehabilitative therapies
  • Support services 

Who should use the guidelines?

These clinical care guidelines are intended for use by anyone providing medical care, rehabilitative care, or support services for individuals with Sanfilippo Syndrome.

Additionally, the guidelines are a practical resource for families to become well-informed advocates and for them to share with their local care team, who may not have previous experience with this rare disease. 

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. The patient perspective was integrated through participation of the collaborating Sanfilippo advocacy organisations.

Download the guidelines

Download the Clinical Care Guidelines - ENGLISH 

Download the Clinical Care Guidelines - ITALIAN with thanks to Sanfilippo Fighters (Italy)

Access the Portuguese version via Sanfilippo Portugal

The Russian version is coming soon (with thanks to the Brushkou family, Belarus)

With thanks to:

The authors and members of the Clinical Guidelines Steering Committee, Roberto Guigliani, MD, PhD, of Federal University of Rio Grande do Sul (Brazil); Simon Jones, MD, PhD, of University of Manchester (United Kingdom); Joseph Muenzer, MD, PhD, of University of North Carolina (USA); Nicole Muschol, MD, of University of Hamburg (Germany); Nicholas Smith, MD, University of Adelaide (Australia); Chet Whitley, MD, PhD, University of Minnesota (USA); Cara O’Neill, MD, of Cure Sanfilippo Foundation (USA); Elise Drake, PhD, of Cure Sanfilippo Foundation (USA); Kristina Elvidge, PhD, of Sanfilippo Children’s Foundation (Australia); and Lisa Melton, PhD, of Sanfilippo Children’s Foundation (Australia). 

The many experts who contributed as part of the Guideline Development group and those who participated in consensus-building surveys.

Global Genes, BioMarin Pharmaceutical Inc, Cure Sanfilippo Foundation, and Sanfilippo Children’s Foundation for providing funding to develop these consensus guidelines.

Jonathan Morton, PhD, and Ben Drever, PhD, of Comradis Limited (United Kingdom) for their medical writing support.