Health economics and social science research

Social sciences, heath economics and ethico-legal work underpin clinical research and are required for drug development and access in NMDs. Data on quality of life, burden of illness and patient preferences support decisions by companies, regulators and payers.

Our research has developed approaches for and provided first insights into the health economics of rare neuromuscular diseases such as Duchenne muscular dystrophy, spinal muscular atrophy and myotonic dystrophy, facilitated by collaborations with patient organisations, patient registries, academic networks and public-private partnerships. Shared decision-making and the ways individuals with neuromuscular diseases want to be engaged in research were explored at a recent ENMC workshop co-organised by Hanns and feature in the European IMI PREFER and Solve-RD projects.

Through our collaborative work in international projects we aim to ensure that the views and insights of individuals affected by rare diseases play a central role and that the impact of our research is maximised through secure mechanisms for data access and reuse.

Participants at ENMC workshop on shared decision-making

Relevant publications

Ambrosini, A, Quinlivan, R, Sansone, VA, Meijer, I, Schrijvers, G, Tibben, A et al.. "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. Orphanet J Rare Dis. 2019.14 (1)126 PMID:31174585

Landfeldt, E, Edström, J, Sejersen, T, Tulinius, M, Lochmüller, H, Kirschner, J et al.. Quality of life of patients with spinal muscular atrophy: A systematic review. Eur. J. Paediatr. Neurol. 2019.23 (3)347-356 PMID:30962132

Pogoryelova, O, Urtizberea, JA, Argov, Z, Nishino, I, Lochmüller, H, ENMC workshop study group et al.. 237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscul. Disord. 2019.29 (5)401-410 PMID:30956020

Landfeldt, E, Lochmüller, H, Lindgren, P. Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy. Orphanet J Rare Dis. 2019.14 (1)75 PMID:30940156

Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Gorman, G et al.. Disease burden of myotonic dystrophy type 1. J. Neurol. 2019.266 (4)998-1006 PMID:30788616

Lochmüller, H, Ambrosini, A, van Engelen, B, Hansson, M, Tibben, A, Breukel, A et al.. The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018. J Neuromuscul Dis. .6 (1)161-172 PMID:30714970

Landfeldt, E, Edström, J, Jimenez-Moreno, C, van Engelen, BGM, Kirschner, J, Lochmüller, H et al.. Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. Patient. 2019.12 (4)365-373 PMID:30714084

Baker, DB, Knoppers, BM, Phillips, M, van Enckevort, D, Kaufmann, P, Lochmuller, H et al.. Privacy-Preserving Linkage of Genomic and Clinical Data Sets. IEEE/ACM Trans Comput Biol Bioinform. .16 (4)1342-1348 PMID:30059313

Mascalzoni, D, Dove, ES, Rubinstein, Y, Dawkins, HJ, Kole, A, McCormack, P et al.. International Charter of principles for sharing bio-specimens and data. Eur. J. Hum. Genet. 2015.23 (6)721-8 PMID:25248399

Landfeldt, E, Lindgren, P, Bell, CF, Schmitt, C, Guglieri, M, Straub, V et al.. The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology. 2014.83 (6)529-36 PMID:24991029