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

Area of Science:

• Genetics and rare diseases
• Lysosomal storage disorders
• Clinical medicine

Background:

• Niemann-Pick disease type C (NPC) is an ultra-rare, autosomal recessive neurovisceral lysosomal disorder.
• Previous clinical management guidelines for NPC were published in 2018.
• Recent advancements in diagnostics, care, and novel therapeutics necessitate guideline revision.

Purpose of the Study:

• To revise and update the 2018 clinical management guidelines for Niemann-Pick disease type C (NPC).
• To ensure safe, consistent, and high-quality care for individuals with NPC.
• To provide an internationally applicable resource for NPC diagnosis, treatment, and holistic management.

Main Methods:

• Convening a multidisciplinary Guidelines Development Group (GDG) with international NPC expertise, including patients and families.
• Conducting a comprehensive literature review.
• Systematically reviewing, revising, and updating 2018 guideline statements based on evidence and expert agreement.

Main Results:

• The 2025 consensus clinical management guidelines for NPC have been developed.
• Guidelines incorporate the latest evidence, diagnostic tools, and therapeutic approvals.
• Recommendations reflect updated levels of evidence, strength of recommendations, and expert consensus.

Conclusions:

• The 2025 guidelines offer a timely and up-to-date resource for NPC care.
• These guidelines support standardized and inclusive care pathways for NPC patients worldwide.
• The resource is critical for specialist centers, healthcare providers, and patients/families involved in NPC management.