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 towards the end of 2018. Production of a family-friendly version of the guidelines is also planned.
This project is supported by a grant from Global Genes.
The first Global Clinical Guidelines Steering Committee meeting was held at the WORLD Symposium in San Diego, USA in February 2018.