Format

Send to

Choose Destination
J Neurol. 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.

Author information

1
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
2
Clinical Trials Unit, Medical Center, University of Freiburg, Freiburg, Germany.
3
Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany.
4
Biogen MA Inc., Cambridge, USA.
5
Epidemiology Associates LLC, Chapel Hill, USA.
6
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. hanns.lochmuller@ncl.ac.uk.

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 Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations.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

PMID:
28634652
PMCID:
PMC5502065
DOI:
10.1007/s00415-017-8549-1
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Springer Icon for PubMed Central
Loading ...
Support Center