Sanfilippo syndrome: consensus guidelines for clinical care

MPS III Guideline Development Group

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations

Abstract

Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no published standard global clinical care guidelines for patients with Sanfilippo syndrome. To address this, a literature review was conducted to evaluate the current evidence base and to identify evidence gaps. The findings were reviewed by an international steering committee composed of clinical experts with extensive experience in managing patients with Sanfilippo syndrome. The goal was to create a consensus set of basic clinical guidelines that will be accessible to and informed by clinicians globally, as well as providing a practical resource for families to share with their local care team who may not have experience with this rare disease. This review distills 178 guideline statements into an easily digestible document that provides evidence-based, expert-led recommendations for how to approach common management challenges and appropriate monitoring schedules in the care of patients with Sanfilippo syndrome.

Original languageEnglish (US)
Article number391
JournalOrphanet Journal of Rare Diseases
Volume17
Issue number1
DOIs
StatePublished - Dec 2022

Bibliographical note

Funding Information:
The authors are grateful to Jonathan Morton PhD of Comradis Limited (Oxford, UK) for his assistance in writing this manuscript, funded by Cure Sanfilippo Foundation, and to the many clinicians globally who participated in the online survey to establish consensus.

Funding Information:
Funding to support development of these consensus guidelines was provided in part by Global Genes, BioMarin Pharmaceutical Inc, Cure Sanfilippo Foundation, and Sanfilippo Children’s Foundation. Global Genes and BioMarin were not involved in any stages of the process and did not influence the design or content of the resulting guidance statements or manuscript.

Publisher Copyright:
© 2022, The Author(s).

Keywords

  • Diagnosis
  • Management
  • Mucopolysaccharidosis type III
  • Recommendations
  • Sanfilippo syndrome

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