Recommendations for patient screening in ultra-rare inherited metabolic diseases : what have we learned from Niemann-Pick disease type C?

dc.contributor.authorSobrido, Maria-Jesus
dc.contributor.authorBauer, Peter
dc.contributor.authorDe Koning, Tom
dc.contributor.authorKlopstock, Thomas
dc.contributor.authorNadjar, Yann
dc.contributor.authorPatterson, Marc C.
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorHendriksz, Christian J.
dc.date.accessioned2020-08-17T11:37:18Z
dc.date.available2020-08-17T11:37:18Z
dc.date.issued2019-01
dc.descriptionAdditional file 1: Summary of published screening studies based primarily on genetic analysis.en_ZA
dc.descriptionAdditional file 2: Summary of published screening studies based primarily on biomarker analysis.en_ZA
dc.descriptionAdditional file 3: Summary of published screening studies based primarily on medical chart review and bioinformatics/data mining.en_ZA
dc.description.abstractBACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to illustrate the challenges, benefits and pitfalls associated with screening for ultra-rare inborn errors of metabolism (IEMs). A comprehensive, non-systematic review of published information from NP-C screening studies was conducted, focusing on diagnostic methods and study designs that have been employed to date. As a key part of this analysis, data from both successful studies (where cases were positively identified) and unsuccessful studies (where the chosen approach failed to identify any cases) were included alongside information from our own experiences gained from the planning and execution of screening for NP-C. On this basis, best-practice recommendations for ultra-rare IEM screening are provided. Twenty-six published screening studies were identified and categorised according to study design into four groups: 1) prospective patient cohort and family-based secondary screenings (18 studies); 2) analyses of archived ‘biobank’ materials (one study); 3) medical chart review and bioinformatics data mining (five studies); and 4) newborn screening (two studies). NPC1/NPC2 sequencing was the most common primary screening method (Sanger sequencing in eight studies and next-generation sequencing [gene panel or exome sequencing] in five studies), followed by biomarker analyses (usually oxysterols) and clinical surveillance. CONCLUSIONS: Historically, screening for NP-C has been based on single-patient studies, small case series, and targeted cohorts, but the emergence of new diagnostic methods over the last 5–10 years has provided opportunities to screen for NP-C on a larger scale. Combining clinical, biomarker and genetic diagnostic methods represents the most effective way to identify NP-C cases, while reducing the likelihood of misdiagnosis. Our recommendations are intended as a guide for planning screening protocols for ultra-rare IEMs in general.en_ZA
dc.description.departmentPaediatrics and Child Healthen_ZA
dc.description.librarianpm2020en_ZA
dc.description.urihttps://ojrd.biomedcentral.comen_ZA
dc.identifier.citationSobrido, M., Bauer, P., de Koning, T. et al. Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? Orphanet Journal of Rare Diseases 14, 20 (2019). https://doi.org/10.1186/s13023-018-0985-1.en_ZA
dc.identifier.issn1750-1172 (online)
dc.identifier.other10.1186/s13023-018-0985-1
dc.identifier.urihttp://hdl.handle.net/2263/75770
dc.language.isoenen_ZA
dc.publisherBioMed Central (BMC)en_ZA
dc.rights© The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License.en_ZA
dc.subjectScreeningen_ZA
dc.subjectDiagnosisen_ZA
dc.subjectUltra-rare diseaseen_ZA
dc.subjectRare and ultra-rare diseases (URDs)en_ZA
dc.subjectNiemann-Pick disease type C (NP-C)en_ZA
dc.subjectInborn errors of metabolism (IEMs)en_ZA
dc.titleRecommendations for patient screening in ultra-rare inherited metabolic diseases : what have we learned from Niemann-Pick disease type C?en_ZA
dc.typeArticleen_ZA

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