2025 Consensus Clinical Management Guidelines for Niemann–Pick Disease Type C

Published in the Journal of Inherited Metabolic Disease

May 2026

INPDA is delighted to announce the publication of the 2025 Consensus Clinical Management Guidelines for Niemann–Pick Disease Type C in the Journal of Inherited Metabolic Disease.

This important update revises and expands upon the widely used 2018 guidelines. It incorporates significant advances in diagnostics, disease understanding, and especially the approval of new disease-modifying therapies.

Why These Guidelines Matter

Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, neurovisceral lysosomal storage disorder. The 2025 guidelines provide a timely, up-to-date, and internationally applicable resource for the diagnosis, treatment, and holistic management of individuals with NPC.

They are designed to support:

• Specialist centres and hospital teams
• Family physicians and primary caregivers
• Patients and their families

The guidelines aim to promote standardised, high-quality care worldwide, reduce variability in practice, and improve outcomes and quality of life for those living with NPC.

Key Features of the 2025 Update

• Updated recommendations on diagnosis (including clearer pathways involving biomarkers and genetic testing)
• Integration of newly approved disease-modifying therapies into care pathways
• Revised and strengthened statements on multidisciplinary management
• Holistic care covering neurological, visceral, psychiatric, and supportive needs
• Input from a large international multidisciplinary group (experts from 14 countries across 5 continents, plus patient and family representatives)

Acknowledgements

We extend our sincere thanks to Dr. Tarekegn Hiwot for leading this major effort, along with the many dedicated clinicians, researchers, and advocates worldwide who contributed their expertise. We also thank the team at 67health for their valuable support.

Access the Full Guidelines

🔗 http://dx.doi.org/10.1002/jimd.70185

This update reflects the latest evidence and expert consensus to improve the care and quality of life for individuals living with Niemann-Pick disease type C worldwide.