ArticleOrphanet journal of rare diseases2018
Consensus clinical management guidelines for Niemann-Pick disease type C.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 147 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
147 citing papers in PubMed, 1 synthesis or guideline pooled it, 280 citations in OpenAlex.
- Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Efficacy and safety of efavirenz in Niemann-Pick disease type C.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Trial
- Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.Neurology · 2025Trial
- Trial
- Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.Journal of inherited metabolic disease · 2021Trial
- Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudy.Molecular genetics and metabolism reports · 2026Article
- Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.JIMD reports · 2026Article
- Article
- Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity.iScience · 2026Article
- From Neonatal Cholestasis to Progressive Neurological Impairment: A Case of Niemann-Pick Disease Type C.Cureus · 2026Article
- 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.Journal of inherited metabolic disease · 2026Review
- An Australian standard of care for Niemann-Pick disease type C.Internal medicine journal · 2026Article
- Molecular and Genetic Aspects of Lipid Metabolism Disorders and Potential Targets for Gene Therapy.Journal of lipid and atherosclerosis · 2026Review
- Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C.Journal of extracellular biology · 2026Article
- Therapeutic Potential of Mesenchymal Stem Cells in Niemann-Pick Disease.Molecular biotechnology · 2026Review
- Article
- Clinical and molecular spectrum of Niemann-Pick disease type C patients in India.Frontiers in pediatrics · 2026Article
- Extracellular vesicles as minimally invasive biomarkers and therapeutic platforms in rare neurological diseases.Frontiers in aging · 2026Review
- Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment.Journal of inherited metabolic disease · 2025Review
- Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study.Orphanet journal of rare diseases · 2025Article
87 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 12 institutions in 8 countries.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.