Consensus clinical management guidelines for Niemann-Pick disease type C

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Publicated to:Orphanet Journal Of Rare Diseases. 13 (1): 50- - 2018-04-06 13(1), DOI: 10.1186/s13023-018-0785-7

Authors: Geberhiwot T; Moro A; Dardis A; Ramaswami U; Sirrs S; Marfa MP; Vanier MT; Walterfang M; Bolton S; Dawson C; Héron B; Stampfer M; Imrie J; Hendriksz C; Gissen P; Crushell E; Coll MJ; Nadjar Y; Klünemann H; Mengel E; Hrebicek M; Jones SA; Ory D; Bembi B; Patterson M

Affiliations

AP-HP Assistance Publique - Hopitaux de Paris - Author

Children's University Hospital, Dublin - Author

Christie Hospital NHS Foundation Trust - Author

General Hospital of Udine - Author

Hopital Universitaire Pitie Salpetriere - Author

Hospital Clinic Barcelona - Author

Hospital Sant Joan de Déu - Author

Klinikum der Universitat Regensburg und Medizinische Fakultat - Author

Mayo 1290 Clinic - Author

NHS Foundation Trust - Author

Niemann-Pick UK - Author

Royal Melbourne Hospital - Author

The Medical Research Council Laboratory of Molecular Biology - Author

Universitatmedizin Mainz - Author

Universitatsklinikum Tubingen Medizinische Fakultat - Author

Universite Claude Bernard, Faculte de Medecine RTH Laennec - Author

University Economics in Prague - Author

University Hospital Birmingham NHS Foundation Trust - Author

University of Birmingham - Author

University of Washington, Seattle - Author

Vancouver General Hospital - Author

Abstract

© 2018 The Author(s). Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy. NPC has an estimated incidence of ~ 1: 100,000 and the rarity of the disease translate into misdiagnosis, delayed diagnosis and barriers to good care. For these reasons, we have developed clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients. The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with NPC. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. We made a series of conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. These guidelines can inform care providers, care funders, patients and their carers of best practice of care for patients with NPC. In addition, these guidelines have identified gaps in the knowledge that must be filled by future research. It is anticipated that the implementation of these guidelines will lead to a step change in the quality of care for patients with NPC irrespective of their geographical location.

Keywords

diagnosisguidelinesmanagementnpcDiagnosisGuidelinesManagementNiemann-pick type cNpc

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Orphanet Journal Of Rare Diseases due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2018, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Medicine (Miscellaneous).

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 2.84. This indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 14, 2024)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

Weighted Average of Normalized Impact by the Scopus agency: 7.38 (source consulted: FECYT Feb 2024)
Field Citation Ratio (FCR) from Dimensions: 64.51 (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-18, the following number of citations:

WoS: 72
Scopus: 214
Europe PMC: 104
OpenCitations: 207

Impact and social visibility

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Australia; Canada; Czech Republic; France; Germany; Gran Bretanya; Italy; United Kingdom; United States of America.

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