Rare disease Archives - Page 2 of 2

Assessing the value of orphan drugs using conventional cost-effectiveness analysis: is it fit for purpose?

Authors: M J Postma, D Noone, M H Rozenbaum, J A Carter, M F Botteman, E Fenwick, L P Garrison Published: Orphanet Journal of Rare Diseases, 2022 View publication Abstract Conventional cost-effectiveness...

Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

Authors: A Hamed, P Das Mahapatra, N Lyn, C Gwaltney, C Iaconangelo, D Serrano, V Modur, J Politei Published: Molecular genetics and metabolism reports, 2021 View publication Background Fabry disease (FD) is...

A benchmarking audit of the pre-diagnosis pathway in patients with Duchenne Muscular Dystrophy

Authors: V Gowda, M Fernandez, M Prasad, AM Childs, I Hughes, S Tirupathi, C De Goede, D O’Rourke, D Parasuraman, T Willis, S Saberian, I Davidson Published: European Journal of Neurology, 2021...

PRO115 A patient-centric approach to designing a mixed-methods observational study involving adolescents with X-Linked Hypophosphatemia

Authors: A J Rylands, A Williams, E H Davies, S A Vincent, K M A Bailey Published: Value in Health, 2020 View publication Objectives A European, prospective, multi-centre, mixed-methods observational study is...

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Authors: J Y Tang, M P Marinkovich, E Lucas, E Gorell, A Chiou, Y Lu, J Gillon, D Patel, D Rudin Published: Orphanet Journal of Rare Diseases, 2021 View publication Background/objective Recessive...

Economic impact model of delayed inhibitor development in patients with hemophilia a receiving emicizumab for the prevention of bleeding events

Authors: A M Patel, S L Corman, S Chaplin, K Raimundo, R F Sidonio Jr. Published: Journal of Medical Economics, 2019 View publication Aims Cumulative exogenous factor VIII (FVIII) exposure is an...

Treatment patterns and healthcare resource utilization among patients with hereditary angioedema in the United States

Authors: M A Riedl, A Banerji, M E Manning, E Burrell, N Joshi, D Patel, T Machnig, M H Tai, D J Watson. Published: Orphanet Journal of Rare Diseases, 2018 View publication...

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