Maladies neurométaboliques traitables associées aux troubles du spectre de la schizophrénie

Bonnot, Olivier; Herrera, Paula M.; Küster, Alice

doi:10.1016/j.lpm.2015.02.023

Cited by 2 publications

(1 citation statement)

References 57 publications

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“…Ultra-rare IEMs have received increased attention in the last two decades due to the characterisation of causal genes and underlying metabolic pathways. This has enabled the development of targeted, disease-modifying treatments for a number of such conditions, including Niemann-Pick disease types A, B and C (NP-A/NP-B/NP-C), Gaucher disease type 3 (GD3), Fabry disease, phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and homocysteinemia, among others [1, 7, 8]. Such therapies can have a major effect on disease course, increasing patient quality of life and improving outcomes [9–11], but early and prompt initiation of treatment is usually required to minimise or prevent irreversible pathology (e.g., neuronal damage in neurodegenerative IEMs).…”

Section: Introductionmentioning

confidence: 99%

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

Sobrido

Bauer

Koning

et al. 2019

Orphanet J Rare Dis

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BackgroundRare 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.ConclusionsHistorically, 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.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0985-1) contains supplementary material, which is available to authorized users.

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