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Open Access 01-07-2017 | Original Communication

A multi-source approach to determine SMA incidence and research ready population

Authors: Ingrid E. C. Verhaart, Agata Robertson, Rebecca Leary, Grace McMacken, Kirsten König, Janbernd Kirschner, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller

Published in: Journal of Neurology | Issue 7/2017

Abstract

In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology. To investigate the incidence of genetically confirmed SMA, and the number of patients who are able and approachable to participate in new clinical trials and observational research, we used both genetic laboratories, the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR). In Europe, 4653 patients were genetically diagnosed by the genetic laboratories in the 5-year period 2011 to 2015, with 992 diagnosed in 2015 alone. The data provide an estimated incidence of SMA in Europe of 1 in 3900–16,000 live births. Patient numbers in the national patient registries and CTSR were considerably lower. By far, most patients registered in the national patient registries and the CTSR live in Europe and are reported to have SMA type II. Considerable differences between countries in patient participation in the registries were observed. Our findings indicate that not all patients with SMA are accessed by specialist healthcare services and these patients may not have access to research opportunities and optimal care.

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Title: A multi-source approach to determine SMA incidence and research ready population
Authors: Ingrid E. C. Verhaart
Agata Robertson
Rebecca Leary
Grace McMacken
Kirsten König
Janbernd Kirschner
Cynthia C. Jones
Suzanne F. Cook
Hanns Lochmüller
Publication date: 01-07-2017
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 7/2017
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-017-8549-1

At a glance: The STEP trials

Springer Medicine

A multi-source approach to determine SMA incidence and research ready population

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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