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Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Author information

1
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. tarekegn.hiwot@uhb.nhs.uk.
2
AMC Hospital of Udine, Udine, Italy.
3
Royal Free London NHS Foundation Trust, London, UK.
4
Vancouver General Hospital, Vancouver, Canada.
5
Hospital Sant Joan de Deu, Barcelona, Spain.
6
INSERM U820, Université de Lyon, Faculté de Médecine Lyon-Est, Lyon, 69372, France.
7
Royal Melbourne Hospital, Parkville, Australia.
8
University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
9
Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, UPMC University 06, Paris, France.
10
Universitatsklinikum Tubingen Institut fur Medizinische Genetik undangewandte Genomik, Tubingen, Germany.
11
Niemann-Pick UK, Washington, UK.
12
Salford Royal NHS Foundation Trust, Salford, UK.
13
MRC Laboratory for Molecular Cell Biology, London, UK.
14
Children's University Hospital, Dublin, Republic of Ireland.
15
Hospital Clinic de Barcelona, Barcelona, Spain.
16
Hopital Universitaire Pitie Salpetriere, Paris, France.
17
Universitatsklinikum Regensburg Klinik und Poliklinik fur Chirurgie, Regensburg, Germany.
18
Universitatmedizin Mainz, Mainz, Germany.
19
Charlies University in Prague, Prague, Czech Republic.
20
Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
21
University of Washington School of Medicine, Seattle, USA.
22
Mayo 1290 Clinic Department of Pediatric and Adolescent Medicine, Minnesota, USA.

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.

KEYWORDS:

Diagnosis; Guidelines; Management; NPC; Niemann-Pick Type C

PMID:
29625568
PMCID:
PMC5889539
DOI:
10.1186/s13023-018-0785-7
[Indexed for MEDLINE]
Free PMC Article

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