Clinical Care Guidelines for Sanfilippo Syndrome

Collecting Best-Available Evidence to Guide Care

Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome in partnership with the Sanfilippo Children’s Foundation (Australia).

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 centers; and enable affected families to make informed decisions regarding care and treatment.

As several promising treatments move into clinical trial, the need for Global Clinical Guidelines for the management of Sanfilippo Syndrome has become increasingly important.

The international  steering committee for this project includes:

  • Dr. Simon Jones, UK (Chair);
  • Dr. Joseph Muenzer, US;
  • Dr. Chester Whitley, US;
  • Dr. Nicole Muschol, Germany;
  • Dr. Nicholas Smith, Australia; and
  • 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 finalized Global Clinical 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 a grant from Global Genes and BioMarin Pharmaceutical.

Below: The team aggregated by the Foundation to lead the project.

Global Clinical Guidelines on Sanfilippo Syndrome Steering Committee - February 2018

Notified When Available

If you would like to be notified when the global management guidelines are available, please e-mail

Other Thought-Leadership Projects

Curing Sanfilippo Syndrome is the Foundation’s ultimate goal. It is also important to influence the road that leads there. The path from identifying symptoms to diagnosis to treatment needs to be as direct as possible and filled with accurate information. Learn more about the Foundation’s thought-leadership projects to contribute to better understanding of the disease, more effective treatments, and opportunities for earlier diagnosis.