References
- Genetic Disorders. U.S. NIH MedlinePlus; 2020. Cited: 2020 Oct 20. Available from: https://medlineplus.gov/geneticdisorders.html
- Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165–173.
- Benjamin K, Vernon MK, Patrick DL, et al. Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: an ISPOR COA Emerging Good Practices Task Force Report. Value Health. 2017;20(7):838–855.
- Drummond MF, Neumann PJ, Sullivan SD, et al. Analytic Considerations in Applying a General Economic Evaluation Reference Case to Gene Therapy. Value Health. 2019;22(6):661–668.
- Maldonado R, Jalil S, Wartiovaara K. Curative gene therapies for rare diseases. Journal of Community Genetics. 2020;12:267–276. DOI:https://doi.org/10.1007/s12687-020-00480-6.
- D’Amico A, Mercuri E, Tiziano FD, et al. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6(1):71.
- Vreman RA, Heikkinen I, Schuurman A, et al. Unmet Medical Need: an Introduction to Definitions and Stakeholder Perceptions. Value Health. 2019;22(11):1275–1282.
- Putzeist M, Heemstra HE, Garcia JL, et al. Determinants for successful marketing authorisation of orphan medicinal products in the EU. Drug Discov Today. 2012;17(7–8):352–358.
- Qiu T, Hanna E, Dabbous M, et al. Regenerative medicine regulatory policies: a systematic review and international comparison. Health Policy. 2020;124(7):701–713.
- Barron AJ, Klinger C, Shah SM, et al. A regulatory governance perspective on health technology assessment (HTA) in France: the contextual mediation of common functional pressures. Health Policy. 2015;119(2):137–146.
- GAR G, Paiva RMA. Gene therapy: advances, challenges and perspectives. Einstein (Sao Paulo). 2017;15(3):369–375.
- Petrich J, Marchese D, Jenkins C, et al. Gene Replacement Therapy: a Primer for the Health-system Pharmacist. J Pharm Pract. 2020;33(6):846–855.
- Aballéa S, Thokagevistk K, Velikanova R, et al. Health economic evaluation of gene replacement therapies: methodological issues and recommendations. J Mark Access Health Policy. 2020;8(1):1822666.
- Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;5(11).
- Paramore C, Levine L, Bagshaw E, et al. Patient- and Caregiver-Reported Burden of Transfusion-Dependent β-Thalassemia Measured Using a Digital Application. Patient. 2021 2020 Oct 30;14(2):197–208. Epub.
- Hanna E, Remuzat C, Auquier P, et al. Advanced therapy medicinal products: current and future perspectives. 2016;4. J Mark Access Health Policy. DOI:https://doi.org/10.3402/jmahp.v4.31036.
- Seoane-Vazquez E, Shukla V, Rodriguez-Monguio R. Innovation and competition in advanced therapy medicinal products. EMBO Mol Med. 2019;11(3):e9992.
- Wong CH, Li D, Wang N, et al. Estimating the Financial Impact of Gene Therapy*. medRxiv 2020;2020(10):27.20220871.
- Qiu T, Hanna E, Dabbous M, et al. Health Technology Assessment of Gene Therapies in Europe and the USA: analysis and Future Considerations. Cell and Gene Therapy Insights. 2019;5(8):1043–1059.
- Elverum K, Whitman M. Delivering cellular and gene therapies to patients: solutions for realizing the potential of the next generation of medicine. Gene Ther. 2020;27(12):537–544.
- Yang JC, Plastaras JP. Navigating the narrow bridge to CAR T-cell therapy. Blood Adv. 2020;4(13):2884–2885.
- Lin JK, Muffly LS, Spinner MA, et al. Cost Effectiveness of Chimeric Antigen Receptor T-Cell Therapy in Multiply Relapsed or Refractory Adult Large B-Cell Lymphoma. J Clin Oncol. 2019;37(24):2105–2119.
- Fiorenza S, Ritchie DS, Ramsey SD, et al. Value and affordability of CAR T-cell therapy in the United States. Bone Marrow Transplant. 2020;55(9):1706–1715.
- Machin N, Ragni MV, Smith KJ. Gene therapy in hemophilia A: a cost-effectiveness analysis. Blood Adv. 2018;2(14):1792–1798.
- Johnson S, Buessing M, O’Connell T, et al. Cost-effectiveness of Voretigene Neparvovec-rzyl vs Standard Care for RPE65-Mediated Inherited Retinal Disease. JAMA Ophthalmol. 2019. DOI:https://doi.org/10.1001/jamaophthalmol.2019.2512.
- Lyman GH, Nguyen A, Snyder S, et al. Economic Evaluation of Chimeric Antigen Receptor T-Cell Therapy by Site of Care Among Patients With Relapsed or Refractory Large B-Cell Lymphoma. JAMA Network Open. 2020;3(4):e202072.
- Zhu F, Wei G, Zhang M, et al. Factors Associated with Costs in Chimeric Antigen Receptor T-Cell Therapy for Patients with Relapsed/Refractory B-Cell Malignancies. Cell Transplantation. 2020;29:0963689720919434.
- Champion AR, Lewis S, Davies S, et al. Managing access to advanced therapy medicinal products: challenges for NHS Wales. Br J Clin Pharmacol. 2020;1–6. DOI:https://doi.org/10.1111/bcp.14286.
- Immunotherapy PV. Tisagenlecleucel - the first approved CAR-T-cell therapy: implications for payers and policy makers. Nat Rev Clin Oncol. 2018;15(1):11–12.
- Roth JA, Sullivan SD, Lin VW, et al. Cost-effectiveness of axicabtagene ciloleucel for adult patients with relapsed or refractory large B-cell lymphoma in the United States. J Med Econ. 2018;21(12):1238–1245.
- López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, et al. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):141.
- Hendrie D, Bebbington A, Bower C, et al. Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome. Res Autism Spectrum Disord. 2011;5(2):901–909.
- Salzman R, Cook F, Hunt T, et al. Addressing the Value of Gene Therapy and Enhancing Patient Access to Transformative Treatments. Mol Ther. 2018;26(12):2717–2726.
- Pike J, Grosse SD. Friction Cost Estimates of Productivity Costs in Cost-of-Illness Studies in Comparison with Human Capital Estimates: a Review. Appl Health Econ Health Policy. 2018;16(6):765–778.
- Sanders GD, Neumann PJ, Basu A, et al. Recommendations for Conduct, Methodological Practices, and Reporting of Cost-effectiveness Analyses: second Panel on Cost-Effectiveness in Health and Medicine. Jama. 2016;316(10):1093–1103.
- Czech M, Baran-Kooiker A, Atikeler K, et al. A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries. Front Public Health. 2019;7:416.
- Zolgensma. U.S. FOOD&DRUG ADMINISTRATION; 2019. Cited: 2020 Dec 19. Available from: https://www.fda.gov/vaccines-blood-biologics/zolgensma
- Zolgensma. EUROPEAN MEDICINE AGENCY (EMA); 2020. Cited: 2020 Dec 19. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/zolgensma
- Zolgensma. Haute Autorité de santé (HAS); 2020. Cited: 2020 Dec 20. Available from: https://www.has-sante.fr/jcms/p_3224937/fr/zolgensma
- Garrison L, Jackson T, Paul D, et al. Value-Based Pricing for Emerging Gene Therapies: the Economic Case for a Higher Cost-Effectiveness Threshold. Journal of Managed Care & Specialty Pharmacy. 2019;25:1–7.
- Angelis A, Naci H, Hackshaw A. Recalibrating Health Technology Assessment Methods for Cell and Gene Therapies. Pharmacoeconomics. 2020;38(12):1297–1308.
- Pearson SD, Ollendorf DA, Chapman RH. New Cost-Effectiveness Methods to Determine Value-Based Prices for Potential Cures: what Are the Options? Value Health. 2019;22(6):656–660.
- Jonsson B, Hampson G, Michaels J, et al. Advanced therapy medicinal products and health technology assessment principles and practices for value-based and sustainable healthcare. Eur J Health Econ. 2019;20(3):427–438.
- NICE encourages further discussions on Kymriah for adult lymphoma. National Insistitute for Health and Care Excellence (NICE); 2018. Cited: 2020 Oct 18. Available from: https://www.nice.org.uk/news/article/nice-encourages-further-discussions-on-kymriah-for-adult-lymphoma
- Tisagenlecleucel for treating relapsed or refractory use large B-cell lymphoma after 2 or more systemic therapies. National Insistitute for Health and Care Excellence (NICE); 2019. Cited: 2020 Oct 25. Available from: https://www.nice.org.uk/guidance/ta567
- Jorgensen J, Servos S, Kefalas P. The potential price and access implications of the cost-utility and budget impact methodologies applied by NICE in England and ICER in the US for a novel gene therapy in Parkinson’s disease. J Mark Access Health Policy. 2018;6(1):1500419.
- Adapted Value Assessment Methods for High-Impact “Single and Short-Term Therapies” (SSTs). Instititute for clinical and economic review (ICER); 2019. Cited: 2020 Oct 20. Available from: https://icer-review.org/wp-content/uploads/2019/01/ICER_SST_FinalAdaptations_111219.pdf
- Coyle D, Durand-Zaleski I, Farrington J, et al. HTA methodology and value frameworks for evaluation and policy making for cell and gene therapies. Eur J Health Econ. 2020;21(9):1421–1437.
- Francois C, Zhou J, Pochopien M, et al. Oncology from an HTA and Health Economic Perspective. Recent Results Cancer Res. 2019;213:25–38.
- Pochopien M, Contente M, Toumi M, et al. Prm116 - General Perceptions of Innovative Methods for Survival Extrapolation in Oncology among Hta in Europe, Canada and Australia. Value Health. 2018;21:S375–S376.
- Pochopien M, Malcolm B, Toumi M, et al. Prm146 - Current and Future Trends in Methodologies of Survival Curve Extrapolation in Oncology Accepted by Hta Authorities. Value Health. 2018;21:S381.
- Ouwens M, Mukhopadhyay P, Zhang Y, et al. Estimating Lifetime Benefits Associated with Immuno-Oncology Therapies: challenges and Approaches for Overall Survival Extrapolations. Pharmacoeconomics. 2019;37(9):1129–1138.
- Othus M, Bansal A, Koepl L, et al. Accounting for Cured Patients in Cost-Effectiveness Analysis. Value Health. 2017;20(4):705–709.
- Lambert PC. Modeling of the Cure Fraction in Survival Studies. Stata J. 2007;7(3):351–375.
- Touchot N, Flume M. The payers’ perspective on gene therapies. Nat Biotechnol. 2015;33(9):902–904.
- Iyengar S, Tay-Teo K, Vogler S, et al. Prices, Costs, and Affordability of New Medicines for Hepatitis C in 30 Countries: an Economic Analysis. PLOS Med. 2016;13(5):e1002032.
- Petrou P. Is it a Chimera? A systematic review of the economic evaluations of CAR-T cell therapy. Expert Rev Pharmacoecon Outcomes Res. 2019;19(5):529–536.
- Bilinski A, Neumann P, Cohen J, et al. When cost-effective interventions are unaffordable: integrating cost-effectiveness and budget impact in priority setting for global health programs. PLOS Med. 2017;14(10):e1002397.
- Peacock SJ, Regier DA, Raymakers AJN, et al. Evidence, values, and funding decisions in Canadian cancer systems. Healthc Manage Forum. 2019;32(6):293–298.
- Qiu T, Wang Y, Liang S, et al. The impact of COVID-19 on the cell and gene therapies industry: disruptions, opportunities, and future prospects. Drug Discov Today. 2021. DOI:https://doi.org/10.1016/j.drudis.2021.04.020.
- NICE. Betibeglogene autotemcel for treating transfusion-dependent beta-thalassaemia - Appraisal consultation document. 2021. Cited: 2021 May 15. Available from: https://www.nice.org.uk/guidance/gid-ta10334/documents/129
- Michelsen S, Nachi S, Van Dyck W, et al. Barriers and Opportunities for Implementation of Outcome-Based Spread Payments for High-Cost, One-Shot Curative Therapies. Front Pharmacol. 2020;11:594446.
- Ronco V, Dilecce M, Lanati E, et al. Price and reimbursement of advanced therapeutic medicinal products in Europe: are assessment and appraisal diverging from expert recommendations? J Pharm Policy Pract. 2021;14(1):30.
- Jørgensen J, Hanna E, Kefalas P. Outcomes-based reimbursement for gene therapies in practice: the experience of recently launched CAR-T cell therapies in major European countries. J Mark Access Health Policy. 2020;8(1):1715536.
- Phillips J, Millum J. Valuing Stillbirths. Bioethics. 2015;29(6):413–423.