Sanfilippo syndrome: consensus guidelines for clinical care

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Sanfilippo syndrome is a group of rare, progressive neurodegenerative lysosomal storage disorders causing childhood dementia.
• Effective management of neurological decline and multisystem involvement necessitates experienced multidisciplinary teams.
• Current lack of global clinical care guidelines hinders prompt diagnosis and appropriate management.

Purpose of the Study:

• To address the absence of standard global clinical care guidelines for Sanfilippo syndrome.
• To develop a consensus set of basic, evidence-based clinical guidelines for global clinicians and families.
• To provide a practical resource for managing common challenges and monitoring in Sanfilippo syndrome care.

Main Methods:

• A comprehensive literature review was conducted to assess the existing evidence base and identify knowledge gaps.
• Findings were reviewed and synthesized by an international steering committee of clinical experts.
• 178 guideline statements were distilled into an accessible document.

Main Results:

• The review identified evidence gaps in the current management of Sanfilippo syndrome.
• An international expert committee developed consensus-based clinical guidelines.
• The guidelines offer recommendations for common management challenges and monitoring schedules.

Conclusions:

• The developed guidelines provide essential, expert-led recommendations for Sanfilippo syndrome care.
• These guidelines aim to improve the consistency and quality of care for patients worldwide.
• The resource supports clinicians and families in navigating the complexities of this rare disease.