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. 2017 Jul;264(7):1465-1473.
doi: 10.1007/s00415-017-8549-1. Epub 2017 Jun 20.

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

Ingrid E C Verhaart  1 , Agata Robertson  1 , Rebecca Leary  1 , Grace McMacken  1 , Kirsten König  2 , Janbernd Kirschner  3 , Cynthia C Jones  4 , Suzanne F Cook  5 , Hanns Lochmüller  6
Affiliations

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

Ingrid E C Verhaart et al. J Neurol. 2017 Jul.

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 Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations.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.

Keywords: Genetic laboratories; Incidence; Prevalence; Registries; Spinal muscular atrophy.

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Conflict of interest statement

Conflicts of interest

Agata Robertson is the curator of the UK SMA patient registry, Rebecca Leary is the TREAT-NMD Programme and Kirsten König and Janberd Kirschner are the Care and Trial Site Registry coordinators. Cynthia C. Jones is employed by and stock holder of Biogen MA Inc. and Suzanne F. Cook is a consultant to Biogen MA Inc. The study was funded by a Grant from Biogen MA Inc.

Ethical standard

This study was approved by the institutional ethics committee. The study was conducted in accordance with the ethical standards laid down in the declaration of Helsinki of 1964 and its later amendments.

Figures

Fig. 1
Fig. 1
Patients in the Global SMA Patient Registry. Number of patients and percentage of total is indicated next to each part. Origin of patients worldwide (a) and subdivision in Europe (b). Europe: Northern Europe: Denmark, Finland, Ireland, Lithuania, Norway and United Kingdom. Western Europe: Austria, Germany, the Netherlands and Switzerland. Southern Europe: Italy, Serbia and Spain. Eastern Europe: Bulgaria, Czech Republic, Hungary, Poland, Russian Federation, Slovakia and Ukraine. Asia: China and Turkey. Oceania: Australia and New Zealand. North America: Canada and the United States. Central and South America: Argentina, Brazil and Mexico [23]. c SMA type. d Age group. For comparison age groups were chosen to match CTSR data. e Gender
Fig. 2
Fig. 2
Patients in the Care and Trial Site Registry. Number of patients and percentage of total is indicated next to each part. Origin of patients per continent (a) and subdivision in Europe (b). Europe: Northern Europe: Denmark, Finland, Ireland, Norway, Sweden and United Kingdom. Western Europe: Austria, Belgium, France, Germany, the Netherlands and Switzerland. Southern Europe: Italy, Portugal, Serbia, Slovenia, Spain. Eastern Europe: Bulgaria, Czech Republic, Hungary, Poland, Republic of Moldavia, Romania, Russian Federation, and Ukraine. Africa: Egypt and Réunion. Asia: China, Indonesia, Israel, Japan, India, Islamic Republic of Iran, Pakistan, Republic of Korea and Turkey. Oceania: Australia and New Zealand. North America: Canada and the United States. South America: Brazil and Chile [23]. c SMA type. d Age group
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