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Open Access 01-12-2022 | Spastic Paraplegia | Research article

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15

Authors: Geert Vander Stichele, Alexandra Durr, Grace Yoon, Rebecca Schüle, Craig Blackstone, Giovanni Esposito, Connor Buffel, Inês Oliveira, Christian Freitag, Stephane van Rooijen, Stéphanie Hoffmann, Leen Thielemans, Belinda S. Cowling

Published in: BMC Neurology | Issue 1/2022

Abstract

Background

Hereditary spastic paraplegias (HSPs) are progressively debilitating neurodegenerative disorders that follow heterogenous patterns of Mendelian inheritance. Available epidemiological evidence provides limited incidence and prevalence data, especially at the genetic subtype level, preventing a realistic estimation of the true social burden of the disease. The objectives of this study were to (1) review the literature on epidemiology of HSPs; and (2) develop an epidemiological model of the prevalence of HSP, focusing on four common HSP genetic subtypes at the country and region-level.

Methods

A model was constructed estimating the incidence at birth, survival, and prevalence of four genetic subtypes of HSP based on the most appropriate published literature. The key model parameters were assessed by HSP clinical experts, who provided feedback on the validity of assumptions. A model was then finalized and validated through comparison of outputs against available evidence. The global, regional, and national prevalence and patient pool were calculated per geographic region and per genetic subtype.

Results

The HSP global prevalence was estimated to be 3.6 per 100,000 for all HSP forms, whilst the estimated global prevalence per genetic subtype was 0.90 (SPG4), 0.22 (SPG7), 0.34 (SPG11), and 0.13 (SPG15), respectively. This equates to an estimated 3365 (SPG4) and 872 (SPG11) symptomatic patients, respectively, in the USA.

Conclusions

This is the first epidemiological model of HSP prevalence at the genetic subtype-level reported at multiple geographic levels. This study offers additional data to better capture the burden of illness due to mutations in common genes causing HSP, that can inform public health policy and healthcare service planning, especially in regions with higher estimated prevalence of HSP.

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Title: An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15
Authors: Geert Vander Stichele
Alexandra Durr
Grace Yoon
Rebecca Schüle
Craig Blackstone
Giovanni Esposito
Connor Buffel
Inês Oliveira
Christian Freitag
Stephane van Rooijen
Stéphanie Hoffmann
Leen Thielemans
Belinda S. Cowling
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Spastic Paraplegia
Published in: BMC Neurology / Issue 1/2022
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-022-02595-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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