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

Baker, D, 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. 2018. PMID:30059313

Landfeldt, E, Edström, J, Buccella, F, Kirschner, J, Lochmüller, H. Duchenne muscular dystrophy and caregiver burden: a systematic review. Dev Med Child Neurol. 2018.60 (10)987-996 PMID:29904912

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 (6)778-785 PMID:29487416

Landfeldt, E, Mayhew, A, Straub, V, Lochmüller, H, Bushby, K, Lindgren, P et al.. Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis. Muscle Nerve. 2018.58 (3)367-373 PMID:29466827

Landfeldt, E, Mayhew, A, Straub, V, Bushby, K, Lochmüller, H, Lindgren, P et al.. Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis. Disabil Rehabil. 2017. 1-8 PMID:29254382

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 (12)1293-1302 PMID:29158551

Landfeldt, E, Edström, J, Lindgren, P, Lochmüller, H. Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review. J Neuromuscul Dis. 2017.4 (4)285-292 PMID:29125503

Austin, CP, Cutillo, CM, Lau, LPL, Jonker, AH, Rath, A, Julkowska, D et al.. Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Clin Transl Sci. 2018.11 (1)21-27 PMID:28796445

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