{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T21:16:50Z","timestamp":1793049410302,"version":"4.5.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T00:00:00Z","timestamp":1595980800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T00:00:00Z","timestamp":1595980800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Expanded access programs (EAPs) allow patients with serious, life-threatening conditions access to drugs prior to their formal approval. Despite the possible benefits for patients, EAPs present several challenges, including uncertainty regarding a drug\u2019s efficacy and safety as well as inequities regarding access to treatment. Although the number of EAPs is growing, the experience of patients participating in EAPs has not yet been studied. In Germany, an EAP for the treatment of Spinal Muscular Atrophy (SMA) with nusinersen ran from December 2016 to May 2017). SMA is a rare, progressive neuromuscular disorder characterized by muscle atrophy and proximal muscle weakness. Insights into patients\u2019 and caregivers\u2019 experiences could help to improve future EAPs.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>We conducted a prospective study using semi-structured interviews with caregivers of children with Spinal Muscular Atrophy (SMA) Type 1who participated in the nusinersen EAP in Germany. Interviews were transcribed verbatim and analyzed using an inductive approach according to the principles of content analysis. Eight families participated in the study. Their children were between 2 and 28\u2009months old. Six children received non-invasive ventilation. Participation in the EAP marked an important turning point in the caregivers\u2019 experiences. Their perspective changed from a severely limited life expectancy and a palliative approach to a more optimistic view including hopes for a longer life and positive development of their children. However, participating in the EAP was also challenging for caregivers in several ways. Lack of information regarding the launch of the program and the enrollment procedures caused significant uncertainty and stress among caregivers prior to the actual treatment. Further, concerns persisted that nusinersen could not be approved or that the child could be excluded due to an insufficient treatment response. Good communication and trusting relationships with medical and non-medical staff at the hospital helped caregivers cope with the uncertainties associated with the treatment.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>From the caregivers\u2019 perspective, there was no alternative to participating in the EAP for nusinersen. All participants were positive regarding their decision to participate. However, this study suggests that developing procedures to increase speed and transparency and to ensure fairness could help to further improve the system of EAPs as a way to provide urgently needed care to highly vulnerable patients.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13023-020-01477-7","type":"journal-article","created":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T13:05:10Z","timestamp":1596027910000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study"],"prefix":"10.1186","volume":"15","author":[{"given":"Petra","family":"Kiefer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Pechmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1756-4307","authenticated-orcid":false,"given":"Thorsten","family":"Langer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,7,29]]},"reference":[{"key":"1477_CR1","volume-title":"US Department of Health and Human Services","author":"E Access","year":"2019","unstructured":"Expanded Access: US Department of Health and Human Services; 2019 https:\/\/www.fda.gov\/NewsEvents\/PublicHealthFocus\/ExpandedAccessCompassionateUse\/default.htm. 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Informed consent was received from all participants.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"PK has no competing interests to disclose. AP reports personal fees for presentations and training activities from Biogen, outside the submitted work; JK reports grants, personal fees, and nonfinancial support from Biogen; grants, personal, fees and nonfinancial support from Roche; personal fees and nonfinancial support from Avexis, outside the submitted work; TL participated in a sponsored workshop by Biogen.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"194"}}