{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:58:54Z","timestamp":1790621934985,"version":"4.1.0"},"reference-count":23,"publisher":"American Medical Association (AMA)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Dermatol"],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:sec id=\"ab-doi230071-4\"><jats:title>Importance<\/jats:title><jats:p>New gene therapies can offer substantial benefits to patients, particularly those with rare diseases who have few therapeutic options. In May 2023, the US Food and Drug Administration (FDA) approved the first topical gene therapy, beremagene geperpavec (B-VEC), for treating both autosomal recessive and autosomal dominant dystrophic epidermolysis bullosa (DEB). However, FDA approval was based on limited data in patients with autosomal dominant disease, even though they comprise approximately 50% of all DEB cases.<\/jats:p><\/jats:sec><jats:sec id=\"ab-doi230071-5\"><jats:title>Objective<\/jats:title><jats:p>To estimate projected spending in the US on B-VEC therapy for treating autosomal recessive and autosomal dominant DEB.<\/jats:p><\/jats:sec><jats:sec id=\"ab-doi230071-6\"><jats:title>Design, Setting, and Participants<\/jats:title><jats:p>This economic evaluation used data from the National Epidermolysis Bullosa Registry to estimate the current population of US patients with autosomal dominant and autosomal recessive DEB, with the aim of estimating US spending on B-VEC therapy from an all-payers perspective during 1- and 3-year periods after FDA approval. A base-case cost of $300\u202f000 per patient per year was assumed based on a report from the manufacturer (Krystal Biotech).<\/jats:p><\/jats:sec><jats:sec id=\"ab-doi230071-7\"><jats:title>Exposure<\/jats:title><jats:p>Treatment with B-VEC.<\/jats:p><\/jats:sec><jats:sec id=\"ab-doi230071-8\"><jats:title>Main Outcomes and Measures<\/jats:title><jats:p>Estimated overall spending on B-VEC in the first year and over a 3-year period after FDA approval. Several prespecified sensitivity analyses with different assumptions about the eligible patient population and the cost of therapy were performed, and lifetime total costs of treatment per patient were estimated.<\/jats:p><\/jats:sec><jats:sec id=\"ab-doi230071-9\"><jats:title>Results<\/jats:title><jats:p>The estimated number of US patients with DEB who were eligible for treatment with B-VEC in the first year after FDA approval was 894. The estimated total expenditure for B-VEC therapy was $268 million (range, $179 million-$357 million). Over a 3-year period, estimated spending was $805 million (range, $537 million-$1.1 billion). Estimated lifetime total costs per patient were $15 million (range, $10 million-$20 million) per patient with autosomal recessive DEB and $17 million (range, $11 million-$22 million) for patients with autosomal dominant DEB.<\/jats:p><\/jats:sec><jats:sec id=\"ab-doi230071-10\"><jats:title>Conclusions and Relevance<\/jats:title><jats:p>Results of this economic evaluation suggest that the FDA\u2019s broad indication for the use of B-VEC in treating both autosomal recessive and autosomal dominant DEB will have significant implications for payers.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamadermatol.2023.5857","type":"journal-article","created":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T16:33:10Z","timestamp":1706718790000},"page":"297","source":"Crossref","is-referenced-by-count":16,"title":["Estimated Spending on Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa"],"prefix":"10.1001","volume":"160","author":[{"given":"Adam J. N.","family":"Raymakers","sequence":"first","affiliation":[{"name":"Program on Regulation, Therapeutics, and Law, Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women\u2019s Hospital, Boston, Massachusetts"},{"name":"Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron S.","family":"Kesselheim","sequence":"additional","affiliation":[{"name":"Program on Regulation, Therapeutics, and Law, Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women\u2019s Hospital, Boston, Massachusetts"},{"name":"Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arash","family":"Mostaghimi","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston, Massachusetts"},{"name":"Department of Dermatology, Brigham and Women\u2019s Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Feldman","sequence":"additional","affiliation":[{"name":"Program on Regulation, Therapeutics, and Law, Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women\u2019s Hospital, Boston, Massachusetts"},{"name":"Harvard Medical School, Boston, Massachusetts"},{"name":"Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women\u2019s Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"24","key":"doi230071r1","doi-asserted-by":"publisher","first-page":"2211","DOI":"10.1056\/NEJMoa2206663","article-title":"Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa.","volume":"387","author":"Guide","year":"2022","journal-title":"N Engl J Med"},{"issue":"3","key":"doi230071r2","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1136\/jmg.2006.045302","article-title":"Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.","volume":"44","author":"Varki","year":"2007","journal-title":"J Med Genet"},{"key":"doi230071r3","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1750-1172-5-12","article-title":"Inherited epidermolysis bullosa.","volume":"5","author":"Fine","year":"2010","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"doi230071r4","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1186\/s13023-021-01811-7","article-title":"A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa.","volume":"16","author":"Tang","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"doi230071r5","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1111\/jdv.v35.4","article-title":"Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?","volume":"35","author":"Baardman","year":"2021","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"11","key":"doi230071r6","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1001\/jamadermatol.2016.2473","article-title":"Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry.","volume":"152","author":"Fine","year":"2016","journal-title":"JAMA Dermatol"},{"issue":"1","key":"doi230071r7","doi-asserted-by":"publisher","first-page":"6","DOI":"10.5582\/irdr.2017.01005","article-title":"Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.","volume":"6","author":"Rashidghamat","year":"2017","journal-title":"Intractable Rare Dis Res"},{"issue":"5","key":"doi230071r8","first-page":"41","article-title":"Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies.","volume":"8","author":"Soro","year":"2015","journal-title":"J Clin Aesthet Dermatol"},{"issue":"21","key":"doi230071r10","doi-asserted-by":"publisher","first-page":"2145","DOI":"10.1001\/jama.2022.5542","article-title":"Trends in prescription drug launch prices, 2008-2021.","volume":"327","author":"Rome","year":"2022","journal-title":"JAMA"},{"issue":"1","key":"doi230071r11","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.drudis.2021.09.001","article-title":"Durable cell and gene therapy potential patient and financial impact: US projections of product approvals, patients treated, and product revenues.","volume":"27","author":"Young","year":"2022","journal-title":"Drug Discov Today"},{"issue":"6","key":"doi230071r12","doi-asserted-by":"publisher","first-page":"54S","DOI":"10.1111\/jid.1994.102.issue-6","article-title":"The National Epidermolysis Bullosa Registry.","volume":"102","author":"Fine","year":"1994","journal-title":"J Invest Dermatol"},{"issue":"2","key":"doi230071r14","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.jaad.2008.09.035","article-title":"Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.","volume":"60","author":"Fine","year":"2009","journal-title":"J Am Acad Dermatol"},{"issue":"4","key":"doi230071r16","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2022.7958","article-title":"Use of extrapolation in new drug approvals by the US Food and Drug Administration.","volume":"5","author":"Feldman","year":"2022","journal-title":"JAMA Netw Open"},{"issue":"4","key":"doi230071r17","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1016\/j.drudis.2019.01.019","article-title":"Luxturna: FDA documents reveal the value of a costly gene therapy.","volume":"24","author":"Darrow","year":"2019","journal-title":"Drug Discov Today"},{"key":"doi230071r19","doi-asserted-by":"publisher","first-page":"933","DOI":"10.2147\/CCID","article-title":"From clinical phenotype to genotypic modelling: incidence and prevalence of recessive dystrophic epidermolysis bullosa (RDEB).","volume":"12","author":"Eichstadt","year":"2019","journal-title":"Clin Cosmet Investig Dermatol"},{"issue":"23","key":"doi230071r20","doi-asserted-by":"publisher","first-page":"2164","DOI":"10.1056\/NEJMp2202726","article-title":"Your money or your life\u2014the high cost of cancer drugs under Medicare Part D.","volume":"386","author":"Dusetzina","year":"2022","journal-title":"N Engl J Med"},{"key":"doi230071r22","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.addr.2017.05.004","article-title":"Lysosomal enzyme replacement therapies: historical development, clinical outcomes, and future perspectives.","volume":"118","author":"Solomon","year":"2017","journal-title":"Adv Drug Deliv Rev"},{"key":"doi230071r9","unstructured":"US Securities and Exchange Commission. Krystal Biotech Inc annual report for the fiscal year ended December 21, 2022. Accessed June 20, 2023. https:\/\/www.sec.gov\/ix?doc=\/Archives\/edgar\/data\/1711279\/000171127923000008\/krys-20221231.htm"},{"key":"doi230071r13","unstructured":"Vyjuvek (beremagene geperpavec-svdt). Package insert. Krystal Biotech;2023. Accessed July 25, 2023. https:\/\/www.fda.gov\/media\/168350\/download"},{"key":"doi230071r15","unstructured":"Epidermolysis bullosa or \u201cbutterfly\u201d skin. Vall d'Hebron University Hospital. Published December 17, 2021. Updated May 1, 2023. Accessed August 3, 2023. https:\/\/hospital.vallhebron.com\/en\/healthcare\/diseases\/epidermolysis-bullosa-or-butterfly-skin"},{"key":"doi230071r18","unstructured":"Spinraza and Zolgensma for spinal muscular atrophy: effectiveness and value. Institute for Clinical and Economic Review. Published April 3, 2019. Updated May 24, 2019. Accessed June 23, 2023. https:\/\/icer.org\/wp-content\/uploads\/2020\/10\/ICER_SMA_Final_Evidence_Report_052419.pdf"},{"key":"doi230071r21","unstructured":"Joseph? A. A devastating skin condition could soon get its first medication, as the frontiers of gene therapy expand. STAT. Published April 3, 2023. Accessed April 10, 2023. https:\/\/www.statnews.com\/2023\/04\/03\/epidermolysis-bullosa-bvec-krystal-gene-therapy\/"},{"key":"doi230071r23","unstructured":"Mullard A. FDA approves first topical gene therapy. Nature Reviews Drug Discovery. Published June 7, 2023. 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