For decades, clinicians and families have lacked clear guidance in making decisions about the timing and referral for medical monitoring and specialist care for children with Sanfilippo Syndrome. Now the guess work is over.
The first-ever global consensus clinical care guidelines for Sanfilippo Syndrome have been published. These guidelines provide guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. 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.
A collaborative effort between Cure Sanfilippo and Sanfilippo Children’s Foundation initiated and led this project through to completion, as well as worked to incorporate the patient perspective throughout the process.
Please share this freely-available document with anyone involved in your child’s care.
How to get a copy of “Sanfilippo syndrome: consensus guidelines for clinical care”?
- You can download a copy at this link
- Please help spread information and share this freely-available document!
Why are the guidelines so important?
Having a rare disease means that most doctors will not have ever seen a person with Sanfilippo syndrome in their career. This results, largely, in guesswork about how to manage your child’s health.
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 removes the guesswork of which symptoms should be monitored, through which tests, and how frequently.
What is in the guidelines?
The document represents a consensus set of basic clinical care guidelines that are accessible to clinicians and families globally. The guidelines consist of evidence-based, expert-led recommendations for how to approach Sanfilippo Syndrome-specific care management and monitoring of disease-related changes.
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.
This multistage process included:
- Review of existing publications and gap analysis
- Draft guidance statements: Guideline Development Group and Steering Committee
- Two rounds of online surveys to health care practitioners to garner consensus
- Final guidance statements that reached consensus were formulated into a manuscript
- Submission of manuscript to journal for peer-review
- Acceptance and publication of the manuscript titled, “Sanfilippo syndrome: consensus guidelines for clinical care”
What are the next steps?
- Cure Sanfilippo Foundation (USA) and Sanfilippo Children’s Foundation (Australia), in collaboration with international Sanfilippo Syndrome organisations, are developing a streamlined version of the guidelines for easy reference and access in multiple languages.
- We will share the guidelines directly with healthcare professionals and with the professional bodies that represent them to ensure widespread awareness of the guidelines amongst the medical community.
“It has been fantastic to work with our colleagues around the world to develop this clinical care guideline and we are very pleased to now be able to share it with the community”, said Dr Lisa Melton, Head of Research at the Sanfilippo Children’s Foundation “Families can share this information with their doctors and allied healthcare providers so that they can work together to ensure their children receive best-practice care and support, regardless of where they live or how familiar, or not, the doctors are with Sanfilippo syndrome. It should be a very powerful resource for everyone.”
Thank you to the many amazing individuals and organizations that contributed to the creation of these clinical care guidelines for Sanfilippo Syndrome.
Thank you 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).
Also thank you to the many experts who contributed as part of the Guideline Development group and those who participated in consensus-building surveys.
Thank you to Global Genes, BioMarin Pharmaceutical Inc, Cure Sanfilippo Foundation, and Sanfilippo Children’s Foundation for providing funding to develop these consensus guidelines.
Thank you to Jonathan Morton, PhD, and Ben Drever, PhD, of Comradis Limited (United Kingdom) for their medical writing support.
Thank you to our wonderful colleagues at Sanfilippo Fighters, Italy, who have translated the Sanfilippo syndrome: consensus guidelines for clinical care into Italian.