Top

Published in:

Open Access 01-12-2019 | Spinal Muscular Atrophy | Research

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Authors: Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible, Janbernd Kirschner

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

Abstract

Background

Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different organizations behind firewalls to protect the privacy of patients. They tend to be fragmented, incomplete and their aggregation leads to further inaccuracies, as the duplicated records cannot easily be identified. We here report about a novel approach to evaluate the incidences of Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) in Germany.

Methods

We performed a retrospective epidemiological study collecting data from patients with dystrophinopathies (DMD and Becker muscular dystrophy) and SMA born between 1995 and 2018. We invited all neuromuscular centers, genetic institutes and the patient registries for DMD and SMA in Germany to participate in the data collection. A novel web-based application for data entry was developed converting patient identifying information into a hash code. Duplicate entries were reliably allocated to the distinct patient.

Results

We collected 5409 data entries in our web-based database representing 1955 distinct patients with dystrophinopathies and 1287 patients with SMA. 55.0% of distinct patients were found in one of the 3 data sources only, while 32.0% were found in 2, and 13.0% in all 3 data sources. The highest number of SMA patients was reported by genetic testing laboratories, while for DMD the highest number was reported by the clinical specialist centers. After the removal of duplicate records, the highest yearly incidence for DMD was calculated as 2.57:10,000 in 2001 and the highest incidence for SMA as 1.36:10,000 in 2014.

Conclusion

With our novel approach (compliant with data protection regulations), we were able to identify unique patient records and estimate the incidence of DMD and SMA in Germany combining and de-duplicating data from patient registries, genetic institutes, and clinical care centers. Although we combined three different data sources, an unknown number of patients might not have been reported by any of these sources. Therefore, our results reflect the minimal incidence of these diseases.

Available only for authorised users

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, et al. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat. 2013;34:1449–57. https://doi.org/10.1002/humu.22390.CrossRefPubMed

Baker D, Knoppers BM, Phillips M, van Enckevort D, Kaufmann P, Lochmuller H, Taruscio D. Privacy-preserving linkage of genomic and clinical data sets. IEEE/ACM Trans Comput Biol Bioinform. 2018. https://doi.org/10.1109/TCBB.2018.2855125.

Ebner H, Hayn D, Falgenhauer M, Nitzlnader M, Schleiermacher G, Haupt R, et al. Piloting the European unified patient identity management (EUPID) concept to facilitate secondary use of neuroblastoma data from Clinical Trials and Biobanking. Stud Health Technol Inform. 2016;223:31–8.PubMed

Thompson R, Robertson A, Lochmüller H. Natural history, trial readiness and gene discovery: advances in patient registries for neuromuscular disease. Adv Exp Med Biol. 2017;1031:97–124. https://doi.org/10.1007/978-3-319-67144-4_5.CrossRefPubMed

Rodger S, Lochmüller H, Tassoni A, Gramsch K, König K, Bushby K, et al. The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis. 2013;8:171. https://doi.org/10.1186/1750-1172-8-171.CrossRefPubMedPubMedCentral

Verhaart IEC, Robertson A, Leary R, McMacken G, König K, Kirschner J, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017;264:1465–73. https://doi.org/10.1007/s00415-017-8549-1.CrossRefPubMedPubMedCentral

Klug C, Schreiber-Katz O, Thiele S, Schorling E, Zowe J, Reilich P, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11:58. https://doi.org/10.1186/s13023-016-0424-0.CrossRefPubMedPubMedCentral

Walter MC, Reilich P. Recent developments in Duchenne muscular dystrophy: facts and numbers. J Cachexia Sarcopenia Muscle. 2017;8:681–5. https://doi.org/10.1002/jcsm.12245.CrossRefPubMedPubMedCentral

Micallef L, Rodgers P. eulerAPE: drawing area-proportional 3-Venn diagrams using ellipses. PLoS One. 2014;9:e101717. https://doi.org/10.1371/journal.pone.0101717.CrossRefPubMedPubMedCentral

10.

Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12:124. https://doi.org/10.1186/s13023-017-0671-8.CrossRefPubMedPubMedCentral

11.

Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24:482–91. https://doi.org/10.1016/j.nmd.2014.03.008.CrossRefPubMed

12.

Ambrosini A, Calabrese D, Avato FM, Catania F, Cavaletti G, Pera MC, et al. The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage. Orphanet J Rare Dis. 2018;13:176. https://doi.org/10.1186/s13023-018-0918-z.CrossRefPubMedPubMedCentral

13.

Wei Y, McCormick A, MacKenzie A, O'Ferrall E, Venance S, Mah JK, et al. The Canadian neuromuscular disease registry: connecting patients to national and international research opportunities. Paediatr Child Health. 2018;23:20–6. https://doi.org/10.1093/pch/pxx125.CrossRefPubMed

14.

Korinthenberg R. A new era in the management of Duchenne muscular dystrophy. Dev Med Child Neurol. 2018. https://doi.org/10.1111/dmcn.14129.

15.

Parente V, Corti S. Advances in spinal muscular atrophy therapeutics. Ther Adv Neurol Disord. 2018;11:1756285618754501. https://doi.org/10.1177/1756285618754501.CrossRefPubMedPubMedCentral

16.

Lochmüller H, Torrent I, Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, et al. The international rare diseases research consortium: policies and guidelines to maximize impact. Eur J Hum Genet. 2017;25:1293–302. https://doi.org/10.1038/s41431-017-0008-z.CrossRefPubMedPubMedCentral

17.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, et al. RD-connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur J Hum Genet. 2018;26:778–85. https://doi.org/10.1038/s41431-018-0115-5.CrossRefPubMedPubMedCentral

Title: De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany
Authors: Kirsten König
Astrid Pechmann
Simone Thiele
Maggie C. Walter
David Schorling
Adrian Tassoni
Hanns Lochmüller
Clemens Müller-Reible
Janbernd Kirschner
Publication date: 01-12-2019
Publisher: BioMed Central
Keywords: Spinal Muscular Atrophy
Muscular Dystrophy
Muscular Dystrophy
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Published in: Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-019-1125-2

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2019

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease