{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T04:09:35Z","timestamp":1780632575516,"version":"3.54.1"},"reference-count":16,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T00:00:00Z","timestamp":1622160000000},"content-version":"unspecified","delay-in-days":147,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Technol Assess Health Care"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:title>Abstract<\/jats:title>\n\t  <jats:sec id=\"S0266462321000337_sec_a1\">\n\t    <jats:title>Background<\/jats:title>\n\t    <jats:p>Conventional appraisal and reimbursement processes are being challenged by the increasing number of rare disease treatments (RDTs) with a small evidence base and often a high price. Processes to appraise RDTs vary across countries; some use standard processes, others have separate processes or adapted processes that explicitly deal with rare disease specificities. The objective of this study was to examine the impacts of different appraisal processes for two RDTs.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0266462321000337_sec_a2\" sec-type=\"methods\">\n\t    <jats:title>Methods<\/jats:title>\n\t    <jats:p>A case study analysis was conducted using countries with different forms of appraisal processes for RDTs for which public health technology assessment (HTA) reports were available. Two contrasting RDTs were chosen according to the criteria: rare versus ultra-rare treatment, affecting child versus adult, life-threatening versus disabling. Information from public HTA reports for each country's RDT appraisal was extracted into templates, allowing a systematic comparison of the appraisals across countries and identification of the impact of the different processes in practice.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0266462321000337_sec_a3\" sec-type=\"results\">\n\t    <jats:title>Results<\/jats:title>\n\t    <jats:p>Reports from Belgium, England, France, Germany, Italy, Netherlands, Norway, Scotland, Sweden, and the USA were selected for nusinersen (for spinal muscular atrophy) and voretigene neparvovec (for inherited retinal disorders). Countries with separate or adapted processes had more consistent approaches for managing RDT-related issues during appraisal, such as stakeholder involvement and criteria to address the specificities of RDTs, creating more transparency in decision-making.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0266462321000337_sec_a4\" sec-type=\"conclusions\">\n\t    <jats:title>Conclusions<\/jats:title>\n\t    <jats:p>Findings suggest that separate or adapted approaches for RDT appraisal may facilitate more structured, consistent decision-making and better management of RDT specificities.<\/jats:p>\n\t  <\/jats:sec>","DOI":"10.1017\/s0266462321000337","type":"journal-article","created":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T01:28:16Z","timestamp":1622165296000},"source":"Crossref","is-referenced-by-count":15,"title":["Examining the impact of different country processes for appraising rare disease treatments: a case study analysis"],"prefix":"10.1017","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2908-9005","authenticated-orcid":false,"given":"Amanda","family":"Whittal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Nicod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Drummond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6670-5271","authenticated-orcid":false,"given":"Karen","family":"Facey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2021,5,28]]},"reference":[{"key":"S0266462321000337_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2018.03.004"},{"key":"S0266462321000337_ref12","unstructured":"12. Improved methods and actionable tools for enhancing HTA (IMPACT HTA). NICE end of life care for adults: Quality standard [cited 2020 Jun 5]. Available from: https:\/\/www.impact-hta.eu\/country-vignettes."},{"key":"S0266462321000337_ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.healthpol.2015.11.007"},{"key":"S0266462321000337_ref13","unstructured":"13. National Institute for Health and Care Excellence (NICE). NICE report: Nusinersen [cited 2020 Mar 24]. Available from: https:\/\/www.nice.org.uk\/guidance\/ta588\/chapter\/1-Recommendations."},{"key":"S0266462321000337_ref11","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01462-0"},{"key":"S0266462321000337_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.healthpol.2017.03.009"},{"key":"S0266462321000337_ref2","unstructured":"2. UK GA. Action for access: A report from Genetic Alliance UK for the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions. 2019."},{"key":"S0266462321000337_ref14","unstructured":"14. National Institute for Health and Care Excellence (NICE). NICE report: Voretigene neparvovec [cited 2020 Mar 24]. Available from: https:\/\/www.nice.org.uk\/guidance\/hst11\/chapter\/1-Recommendations."},{"key":"S0266462321000337_ref16","unstructured":"16. IMPACT HTA. Improved methods and actionable tools for enhancing HTA (IMPACT HTA) [Internet]. Country Vignettes [cited 2020 Aug 13]. Available from: https:\/\/www.impact-hta.eu\/country-vignettes."},{"key":"S0266462321000337_ref7","unstructured":"7. Henderson, N , Errea, M , Skedgel, C , Jofre-Bonet, M . Ethical and economic issues in the appraisal of medicines for ultra-rare conditions. OHE Consulting Report. London; 2020."},{"key":"S0266462321000337_ref8","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0601-9"},{"key":"S0266462321000337_ref9","article-title":"Assessing the effectiveness and value of drugs for rare conditions","author":"Ollendorf","year":"2017","journal-title":"Inst Clin Econ Rev"},{"key":"S0266462321000337_ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0455-6"},{"key":"S0266462321000337_ref1","doi-asserted-by":"publisher","DOI":"10.1586\/17512433.2015.990380"},{"key":"S0266462321000337_ref15","unstructured":"15. European Medicines Agency. EMA voretigene neparvovec [cited 2020 Mar 24]. Available from: https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/luxturna."},{"key":"S0266462321000337_ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2018.02.008"}],"container-title":["International Journal of Technology Assessment in Health Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0266462321000337","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,15]],"date-time":"2021-08-15T21:17:42Z","timestamp":1629062262000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0266462321000337\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021]]}},"alternative-id":["S0266462321000337"],"URL":"https:\/\/doi.org\/10.1017\/s0266462321000337","relation":{},"ISSN":["0266-4623","1471-6348"],"issn-type":[{"value":"0266-4623","type":"print"},{"value":"1471-6348","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]},"article-number":"e65"}}