HTA challenges for appraising rare disease interventions viewed through the lens of an institutional multidimensional value framework

References

• Ministère de la Santé et des Services Sociaux. Pour une meilleure reconnaissance et prise en charge des personnes atteintes de maladies rares - Politique québécoise pour les maladies rares, 22-916-01W, Gouvernement du Québec. 2022 [cited 2022 Aug 31]. https://publications.msss.gouv.qc.ca/msss/document-003397/.
   Google Scholar
• Lancet Diabetes & Endocrinology T, The Lancet Diabetes E. Spotlight on rare diseases. Lancet Diabetes Endocrinol. 2019 Feb;7(2):75.
   Google Scholar
• Regroupement québécois des maladies orphelines. Informations sur les maladies rares et orphelines [updated 2015; cited 2015; cited 2021 Nov 30]. Available from: https://rqmo.org/information-sur-les-maladies-rares-et-orphelines/
   Google Scholar
• Darrow JJ, Avorn J, Kesselheim AS. FDA Approval and Regulation of Pharmaceuticals, 1983-2018. Jama. 2020 Jan 14; 323(2):164–176.
   PubMed Web of Science ®Google Scholar
• Miller KL, Fermaglich LJ, Maynard J. Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases. Orphanet J Rare Dis. 2021 Jun 9; 16(1):265.
   PubMed Web of Science ®Google Scholar
• Nestler-Parr S, Korchagina D, Toumi M, et al. Challenges in research and health technology assessment of rare disease technologies: report of the ISPOR rare disease special interest group. Value Health. 2018 May;21(5):493–500.
   PubMed Web of Science ®Google Scholar
• Daniels N. Decisions about access to health care and accountability for reasonableness. J Urban Health. 1999 Jun;76(2):176–191.
   PubMed Web of Science ®Google Scholar
• Daniels N. Accountability for reasonableness. BMJ. 2000 Nov 25; 321(7272):1300–1301.
   PubMed Web of Science ®Google Scholar
• Berwick DM, Nolan TW, Whittington J. The triple AIM: care, health, and cost. Health Aff (Millwood). 2008 May-Jun;27(3):759–769.
   PubMed Web of Science ®Google Scholar
• Goetghebeur M, Castro-Jaramillo H, Baltussen R, et al. The art of priority setting. Lancet. 2017 Jun 17 389(10087):2368–2369.
   PubMed Web of Science ®Google Scholar
• Goetghebeur MM, Cellier MS. Can reflective multicriteria be the new paradigm for healthcare decision-making? The EVIDEM journey. Cost Eff Resour Alloc. 2018;16(Suppl 1):54.
   PubMedGoogle Scholar
• Annemans L, Makady A. TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases. Orphanet J Rare Dis. 2020 May 26; 15(1):127.
   PubMed Web of Science ®Google Scholar
• Pearson I, Rothwell B, Olaye A, et al. Economic Modeling Considerations for Rare Diseases. Value Health. 2018 May;21(5):515–524.
   PubMed Web of Science ®Google Scholar
• Potter BK, Chakraborty P, Kronick JB, et al. Achieving the “triple AIM” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet Med. 2013 Jun;15(6):415–422.
   PubMed Web of Science ®Google Scholar
• Wagner M, Khoury H, Willet J, et al. Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: analysis of Issues and Policies, and Context-Specific Adaptation. Pharmacoeconomics. 2016 Mar;34(3):285–301.
   PubMed Web of Science ®Google Scholar
• Gericke CA, Riesberg A, Busse R. Ethical issues in funding orphan drug research and development. J Med Ethics. 2005 Mar;31(3):164–168.
   PubMed Web of Science ®Google Scholar
• Juth N, Henriksson M, Gustavsson E, et al. Should we accept a higher cost per health improvement for orphan drugs? A review and analysis of egalitarian arguments. Bioethics. 2021 May;35(4):307–314.
   PubMed Web of Science ®Google Scholar
• Kacetl J, Marešová P, Maskuriy R, et al. Ethical Questions Linked to Rare Diseases and Orphan Drugs - A Systematic Review. Risk Manag Healthc Policy. 2020;13:2125–2148.
   PubMed Web of Science ®Google Scholar
• Largent EA, Pearson SD. Which orphans will find a home? The rule of rescue in resource allocation for rare diseases. = of importance – An insightful discussion of the values involved in decisionmaking on orphan drugs. Hastings Cent Rep. 2012 Jan-Feb;42(1):27–34*.
   PubMed Web of Science ®Google Scholar
• Magalhaes MCSOSN. A Deliberative Perspective from Canada. Value Health. 2018 May;21(5):532–537.
   PubMed Web of Science ®Google Scholar
• Nicod E, Kanavos P. Scientific and social value judgments for orphan drugs in health technology assessment. Int J Technol Assess Health Care. 2016 Jan;32(4):218–232.
   PubMed Web of Science ®Google Scholar
• Ollendorf DA, Chapman RH, Pearson SD. Evaluating and Valuing Drugs for Rare Conditions: no Easy Answers. Value Health. 2018 May;21(5):547–552.
   PubMed Web of Science ®Google Scholar
• Richardson J, Schlander M. Health technology assessment (HTA) and economic evaluation: efficiency or fairness first. J Mark Access Health Policy. 2019;7(1):1557981.
   PubMedGoogle Scholar
• Sculpher M, Claxton K, Pearson SD. Developing a Value Framework: the Need to Reflect the Opportunity Costs of Funding Decisions. Value Health. 2017 Feb;20(2):234–239.
   PubMed Web of Science ®Google Scholar
• Zimmermann BM, Eichinger J, Baumgartner MR. A systematic review of moral reasons on orphan drug reimbursement. Orphanet J Rare Dis. 2021 Jun 30; 16(1):292.
   PubMed Web of Science ®Google Scholar
• Blonda A, Barcina Lacosta T, Toumi M, et al. Assessing the Value of Nusinersen for Spinal Muscular Atrophy: a Comparative Analysis of Reimbursement Submission and Appraisal in European Countries. Front Pharmacol. 2021;12:750742.
   PubMed Web of Science ®Google Scholar
• Janoudi G, Amegatse W, McIntosh B, et al. Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review. Orphanet J Rare Dis. 2016 Dec 1 11(1):164.
   PubMedGoogle Scholar
• Richter T, Janoudi G, Amegatse W, et al. Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR. Orphanet J Rare Dis. 2018 Feb 1 13(1):15.
   PubMedGoogle Scholar
• Grimm SE, Pouwels X, Ramaekers BLT, et al. Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to “TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases”). Orphanet J Rare Dis. 2021 Feb 1 16(1):62.
   PubMed Web of Science ®Google Scholar
• Pai M, Yeung CHT, Akl EA, et al. Strategies for eliciting and synthesizing evidence for guidelines in rare diseases. BMC Med Res Methodol. 2019 Mar 28;19(1):67.
   PubMedGoogle Scholar
• Pontes C, Fontanet JM, Vives R, et al. Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe: methodological uncertainties. Orphanet J Rare Dis. 2018 Nov 15 13(1):206.
   PubMedGoogle Scholar
• Morel T, Cano SJ. Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures. Orphanet J Rare Dis. 2017 Nov 2; 12(1):171.
   PubMedGoogle Scholar
• Nicod E, Meregaglia M, Whittal A, et al. Consideration of quality of life in the health technology assessments of rare disease treatments. Eur J Health Econ. 2021 Oct 29 23(4):645–669.
   PubMed Web of Science ®Google Scholar
• Pascoal C, Brasil S, Francisco R, et al. Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review. Orphanet J Rare Dis. 2018 Nov 28 13(1):215.
   PubMedGoogle Scholar
• Slade A, Isa F, Kyte D, et al. Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 2018 Apr 23 13(1):61.
   PubMedGoogle Scholar
• Rocchi A, Khoudigian S, Hopkins R, et al. Surrogate outcomes: experiences at the Common Drug Review. Cost Eff Resour Alloc. 2013 Dec 17 11(1):31.
   PubMedGoogle Scholar
• Aranda-Reneo I, Rodríguez-Sánchez B, Peña-Longobardo LM, et al. Can the Consideration of Societal Costs Change the Recommendation of Economic Evaluations in the Field of Rare Diseases? An Empirical Analysis. Value Health. 2021 Mar;24(3):431–442.
   PubMed Web of Science ®Google Scholar
• Balijepalli C, Gullapalli L, Druyts E, et al. Can Standard Health Technology Assessment Approaches Help Guide the Price of Orphan Drugs in Canada? A Review of Submissions to the Canadian Agency for Drugs and Technologies in Health Common Drug Review. Clinicoecon Outcomes Res. 2020;12. 445–457.
   PubMed Web of Science ®Google Scholar
• Chambers JD, Silver MC, Berklein FC, et al. Orphan Drugs Offer Larger Health Gains but Less Favorable Cost-effectiveness than Non-orphan Drugs. J Gen Intern Med. 2020 Sep;35(9):2629–2636.
   PubMed Web of Science ®Google Scholar
• Abdallah K, Huys I, Claes K, et al. Methodological Quality Assessment of Budget Impact Analyses for Orphan Drugs: a Systematic Review. Front Pharmacol. 2021;12:630949.
   PubMed Web of Science ®Google Scholar
• Gombocz M, Vogler S. Public spending on orphan medicines: a review of the literature. J Pharm Policy Pract. 2020;13(1):66.
   PubMedGoogle Scholar
• Morgan SG, Bathula HS, Moon S. Pricing of pharmaceuticals is becoming a major challenge for health systems. BMJ. 2020 Jan 13; 368:l4627.
   PubMed Web of Science ®Google Scholar
• Cohen JS, Biesecker BB. Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet A. 2010 May;152A(5):1136–1156.
   PubMed Web of Science ®Google Scholar
• De Santis M. Integrated care for healthcare sustainability for patients living with rare diseases. Ann Ist Super Sanita. 2019 Jul-Sep;55(3):276–282.
   PubMed Web of Science ®Google Scholar
• Pace J, Ghinea N, Kerridge I, et al. An ethical framework for the creation, governance and evaluation of accelerated access programs. Health Policy. 2018 Sep;122(9):984–990.
   PubMed Web of Science ®Google Scholar
• Simoens S, Picavet E, Dooms M, et al. Cost-effectiveness assessment of orphan drugs: a scientific and political conundrum. Appl Health Econ Health Policy. 2013 Feb;11(1):1–3.
   PubMedGoogle Scholar
• Nicod E, Whittal A, Drummond M, et al. Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches. Orphanet J Rare Dis. 2020 Jul 20 15(1):189.
   PubMed Web of Science ®Google Scholar
• Blonda A, Denier Y, Huys I, et al. How to Value Orphan Drugs? A Review of European Value Assessment Frameworks. Front Pharmacol. 2021;12:631527.
   PubMed Web of Science ®Google Scholar
• Nicod E, Annemans L, Bucsics A, et al. HTA programme response to the challenges of dealing with orphan medicinal products: process evaluation in selected European countries. Health Policy. 2019 Feb;123(2):140–151.
   PubMed Web of Science ®Google Scholar
• Blonda A, Denier Y, Huys I, et al. How Can We Optimize the Value Assessment and Appraisal of Orphan Drugs for Reimbursement Purposes? A Qualitative Interview Study Across European Countries. Front Pharmacol. 2022;13:902150.
   PubMed Web of Science ®Google Scholar
• Boulanger V, Schlemmer M, Rossov S, et al. Establishing Patient Registries for Rare Diseases: rationale and Challenges. Pharmaceut Med. 2020 Jun;34(3):185–190.
   PubMed Web of Science ®Google Scholar
• Kodra Y, Weinbach J, Posada-de-la-Paz M, et al. Recommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018 Aug 3 15(8):1644.
   PubMed Web of Science ®Google Scholar
• Ali SR, Bryce J, Kodra Y, et al. The Quality Evaluation of Rare Disease Registries-An Assessment of the Essential Features of a Disease Registry. Int J Environ Res Public Health. 2021 Nov 15 18(22):11968.
   PubMed Web of Science ®Google Scholar
• Talarico R, Cannizzo S, Lorenzoni V, et al. RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks. Orphanet J Rare Dis. 2020 Dec 14;15(1):347.
   PubMed Web of Science ®Google Scholar
• Moon S, Mariat S, Kamae I, et al. Defining the concept of fair pricing for medicines. BMJ. 2020 Jan 13;368:l4726.
   PubMedGoogle Scholar
• Pearson C, Shapiro L, Pearson SD. The Next Generation of Rare Disease Drug Policy: ensuring Both Innovation and Affordability. ICER Institute for Clinical and Economic Review. 2022 [Cited 2022 Aug 31]. https://icer.org/wp-content/uploads/2022/04/ICER-White-Paper_The-Next-Generation-of-Rare-Disease-Drug-Policy_040722.pdf
   Google Scholar
• Franzen N, Retèl VP, Schats W, et al. Evidence Underlying Policy Proposals for Sustainable Anticancer Drug Prices: a Systematic Review. JAMA Oncol. 2020 Jun 1 6(6):909–916.
   PubMed Web of Science ®Google Scholar
• Suleman F, Low M, Moon S, et al. New business models for research and development with affordability requirements are needed to achieve fair pricing of medicines. BMJ. 2020 Jan 13;368:l4408.
   PubMedGoogle Scholar
• Kerpel-Fronius S, Baroutsou V, Becker S, et al. Development and Use of Gene Therapy Orphan Drugs-Ethical Needs for a Broader Cooperation Between the Pharmaceutical Industry and Society. Front Med (Lausanne). 2020;7:608249.
   PubMed Web of Science ®Google Scholar
• Littlejohns P, Kieslich K, Weale A, et al. Creating sustainable health care systems. J Health Organ Manag. 2019 Mar 18 33(1):18–34.
   PubMed Web of Science ®Google Scholar
• De Santis M, Hervas C, Weinman A, et al. Patient empowerment of people living with rare diseases. Its contribution to sustainable and resilient healthcare systems. Ann Ist Super Sanita. 2019 Jul-Sep;55(3):283–291.
   PubMed Web of Science ®Google Scholar
• Douglas CM, Wilcox E, Burgess M, et al. Why orphan drug coverage reimbursement decision-making needs patient and public involvement. Health Policy. 2015 May;119(5):588–596.
   PubMed Web of Science ®Google Scholar