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Consensus clinical management guidelines for Niemann-Pick disease type C

Geberhiwot, T; Moro, A; Dardis, A; Ramaswami, U; Sirrs, S; Marfa, MP; Vanier, MT; ... Patterson, M; + view all (2018) Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Diseases , 13 , Article 50. 10.1186/s13023-018-0785-7. Green open access

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Abstract

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.

Type: Article
Title: Consensus clinical management guidelines for Niemann-Pick disease type C
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/s13023-018-0785-7
Publisher version: http://dx.doi.org/10.1186/s13023-018-0785-7
Language: English
Additional information: © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Keywords: Genetics & Heredity, Medicine, Research & Experimental, Research & Experimental Medicine, Niemann-Pick Type C, NPC, Guidelines, Diagnosis, Management, LYSOSOMAL STORAGE DISORDERS, MIGLUSTAT THERAPY, OBSERVATIONAL COHORT, BRAIN SPECTROSCOPY, PEDIATRIC-PATIENTS, NATURAL-HISTORY, RAPID DIAGNOSIS, NPC1 MUTATIONS, LC-MS/MS, ADULT
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10047493
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