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

DOI
Publisher DOI
PubMed ID
42036217
Abstract
In 2018, the International Niemann-Pick Disease Alliance (INPDA) and the International Niemann-Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann-Pick disease type C (NPC)-an ultra-rare, autosomal recessive, neurovisceral lysosomal disorder. Since then, advances in diagnostics, care, and the approval of two novel disease-modifying agents have underscored the need to revise these guidelines to ensure safe, consistent, and high-quality care for those affected by NPC. In response, the INPDA and INPDR convened a multidisciplinary Guidelines Development Group (GDG) comprising individuals with NPC expertise from 14 countries across five continents, representing a broad range of specialties, as well as patients and families involved in NPC care. Informed by a comprehensive literature review and two meetings, the GDG systematically reviewed, revised, and updated the 2018 guideline statements, re-evaluating the level of evidence, strength of recommendations, and expert agreement for each. The resulting 2025 consensus clinical management guidelines constitute a timely, up-to-date, and internationally applicable resource for the diagnosis, treatment, and holistic management of individuals with NPC. These guidelines serve as a critical resource for specialist centers, hospital-based medical teams, staff involved in NPC patient care, family physicians and other primary caregivers, and, importantly, patients and their families.
Date Issued
2026
Publication Type
Article
Subject(s)
Subjects
NPC
•
Niemann‐Pick disease type C
•
diagnosis
•
guidelines
•
management
•
treatment
Language(s)
en
Author(s)
Hiwot, Tarekegn
Porter, Forbes D
Ramaswami, Uma
Hastings, Caroline
Héron, Bénédicte
Hopkin, Justin
Melville, Joella
Amartino, Hernan
Del Toro, Mireia
Deodato, Federica
Ezgü, Fatih
Gissen, Paul
Gibson, James B
Ficicioglu, Can
Giugliani, Roberto
Staretz-Chacham, Orna
Platt, Frances
Guffon, Nathalie
Julich, Kristina
Kresojević, Nikola
Lehman, Anna
Nadjar, Yann
Schneider, Susanne A
Jones, Simon
Mengel, Eugen
Tchan, Michel
Walterfang, Mark
Goker-Alpan, Ozlem
Dawson, Charlotte
Cowie, Sandra
Mathieson, Toni
Berry-Kravis, Elizabeth
Patterson, Marc C
Additional Credits
Journal
Journal of inherited metabolic disease
Publisher
Wiley
ISSN
1573-2665
Access(Rights)
open.access
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