Global Clinical Guidelines for Sanfilippo

The Sanfilippo Children's Foundation and Cure Sanfilippo Foundation (USA) are working together on this project to develop clinical guidelines for the management of Sanfilippo Syndrome. 

Best practice guidelines for clinical care are critical for both patients and health care professionals in the management of rare diseases where lack of experience and knowledge about a condition often causes late diagnosis and less than optimal management of the condition. Such guidelines allow clinicians and other health care professionals to make recommendations based on best available evidence; improve consistency of diagnosis and clinical management across treatment centres; and enable affected families to make informed decisions regarding care and treatment.

As several promising treatments are now moving into clinical trial, the need for such clinical guidelines has become increasingly important.

The steering committee for this project is: 

  • Dr Simon Jones, UK (Chair)
  • Dr Joseph Muenzer, US
  • Dr Chester Whitley, US
  • Dr Nicole Muschol, Germany
  • Dr Nicholas Smith, Australia
  • Dr Roberto Guigliani, Brazil

Experts worldwide from all of the disciplines of health professionals involved in the care of children and young adults with Sanfilippo will be invited to contribute content to the clinical management guidelines.

These guidelines will be collated and validated by a wider pool of clinicians and the finalised guidelines published in a peer reviewed medical journal in 2020. Production of a family-friendly version of the guidelines is also planned. 

This project is supported by grants from Global Genes and BioMarin Pharmaceuticals.

The first Global Clinical Guidelines Steering Committee meeting was held at the WORLD Symposium in San Diego, USA in February 2018.

Project Update

Over the last few years, the project team, led by the research leads from Cure Sanfilippo Foundation and the Sanfilippo Children’s Foundation, have worked with the steering committee in a thorough and robust multi-stage process to arrive at a set of consensus guidelines. Over 100 clinicians around the world with a range of specialist expertise in the care of individuals with Sanfilippo Syndrome were consulted to achieve consensus on a detailed list of care statements covering all body systems and all aspects of care and monitoring. The patient perspective was provided by the collaborating Sanfilippo advocacy organisations. The consensus statements were then written up into a manuscript for submission to a medical journal for peer review. The manuscript was accepted for publication in the Orphanet Journal of Rare Diseases in September 2022.

Read more about the process and the content of the guidelines and download a copy here

Project Summary

  • Project title: Sanfilippo Syndrome (MPS III) Global Clinical Management Guidelines
  • Duration: 3 years
  • Status: Completed
  • Start date: 2017
  • Location: Global

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