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

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.

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Publication Details

Journal
Journal of Inherited Metabolic Disease
Published
2026-04-26
DOI
https://doi.org/10.1002/jimd.70185
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

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

Michel Tchan, Toni Mathieson, Can Fıçıcıoğlu, Marc C. Patterson et al.
Journal of Inherited Metabolic Disease
Lysosomal Storage Disorders Research
article

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

Michel Tchan, Toni Mathieson, Can Fıçıcıoğlu, Marc C. Patterson, Forbes D. Porter, Nathalie Guffon, Yann Nadjar, Federica Deodato, Tatiana Brémovà-Ertl, Eugen Mengel, Özlem Göker-Alpan, Kristina Julich, Mark Walterfang, Nikola Kresojević, Mireia del Toro, Hernán Amartino, Tarekegn Hiwot, James B. Gibson, Sandra Cowie, Justin Hopkin, Fatih Ezgü, Joella Melville, U Ramaswami, Caroline Hastings, Frances Platt, Paul Gissen, Orna Staretz‐Chacham, Anna Lehman, Simon Jones, Susanne A. Schneider, Elizabeth Berry‐Kravis, Roberto Giugliani, Bénédicte Héron, Charlotte Dawson
article en

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.

Journal of Inherited Metabolic DiseaseVol. 49(3)
University of Hohenheim (DE), Rush University Medical Center (US), National Institutes of Health (US), Universidade Federal do Rio Grande do Sul (BR), University Hospitals Birmingham NHS Foundation Trust (GB), The Royal Melbourne Hospital (AU), Mayo Clinic (US), Children's Hospital of Philadelphia (US), University of British Columbia (CA), Royal Free London NHS Foundation Trust (GB), Johannes Gutenberg University Mainz (DE), Cumbria Northumberland Tyne and Wear NHS Foundation Trust (GB), Great Ormond Street Hospital (GB), Soroka Medical Center (IL), University Hospital of Bern (CH), Health Alliance International (US), Westmead Hospital (AU), National Institute for Health and Care Research (GB), Sorbonne Université (FR), University of Oxford (GB), University of Belgrade (RS), Hôpital Femme Mère Enfant (FR), Hôpital Armand-Trousseau (FR), Manchester University NHS Foundation Trust (GB), University Medical Center of the Johannes Gutenberg University Mainz (DE), Hospital de Clínicas de Porto Alegre (BR), Assistance Publique – Hôpitaux de Paris (FR), Hospital Universitario Austral (AR), Dell Children's Medical Center of Central Texas (US), Lysosomal and Rare Disorders Research and Treatment Center (US), Institut de Myologie (FR), Vine Trust (GB), Bambino Gesù Children's Hospital (IT), Mayo Clinic in Arizona (US), Vall d'Hebron Hospital Universitari (ES), University Clinical Centre (PL), UCSF Benioff Children's Hospital (US), NIHR Surgical Reconstruction and Microbiology Research Centre (GB), Eunice Kennedy Shriver National Institute of Child Health and Human Development (US), Mayo Clinic in Florida (US), SelenBio (United States) (US), iHealth (GB), University College London (GB), University of Rochester (US), University of Birmingham (GB), The University of Texas at Austin (US), Gazi University (TR)
Partnerships for the goals
Openalex Percentile: Top 11%
Lysosomal Storage Disorders Research
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