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In this study\u2014the first to explore priorities of parents of subjects with pediatric onset forms of GM1\u2014we address a crucial gap by characterizing symptoms most critical to caregivers of children with GM1 to treat. Our two\u2010part, mixed\u2010methods approach began with focus groups, followed by interviews with a distinct set of parents. Interviews included a prioritization activity that used best\u2010worst scaling. Quantitative data were analyzed descriptively. Qualitative data were analyzed using thematic analysis and rapid analysis process. Parents prioritized the symptoms they believed would increase their child's lifespan and improve their perceived quality of life (QoL); these symptoms focused on communicating wants\/needs, preventing pain\/discomfort, getting around and moving one's body, and enhancing eating\/feeding. Although lifespan was highly valued, almost all parents would not desire a longer lifespan without acceptable child QoL. Parents indicated high caregiver burden and progressive reduction in QoL for children with GM1. This novel study of caregiver priorities identified important symptoms for endpoints' selection in patient\u2010focused drug development in the context of high disease impact and unmet treatment needs.<\/jats:p>","DOI":"10.1002\/ajmg.a.63038","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T11:39:03Z","timestamp":1671622743000},"page":"408-423","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp>GM1<\/scp>\u2010gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0776-2759","authenticated-orcid":false,"given":"Amanda","family":"Bingaman","sequence":"first","affiliation":[{"name":"RTI International  Research Triangle North Carolina United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Waggoner","sequence":"additional","affiliation":[{"name":"Cure GM1 Foundation  Albany California United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara M.","family":"Andrews","sequence":"additional","affiliation":[{"name":"RTI International  Research Triangle North Carolina United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Pangonis","sequence":"additional","affiliation":[{"name":"National Tay\u2010Sachs &amp; Allied Diseases Association (NTSAD)  Brighton Massachusetts United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Trad","sequence":"additional","affiliation":[{"name":"Lysogene  Neuilly\u2010sur\u2010Seine France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"PPGBM UFRGS, DASA Genomics and Casa dos Raros  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruben","family":"Giorgino","sequence":"additional","affiliation":[{"name":"Azafaros  Leiden Zuid\u2010Holland The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanine","family":"Jarnes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Minnesota  Minneapolis Minnesota United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rojan","family":"Vakili","sequence":"additional","affiliation":[{"name":"Cure GM1 Foundation Member  Albany CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Ballard","sequence":"additional","affiliation":[{"name":"Passage Bio, Inc.  Philadelphia Pennsylvania United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly L.","family":"Peay","sequence":"additional","affiliation":[{"name":"RTI International  Research Triangle North Carolina United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-014-0081-0"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1586\/erp.10.29"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.04.011"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100676"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.12.012"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01667-3"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0444-9"},{"key":"e_1_2_10_9_1","first-page":"3","article-title":"Comparing different experimental designs for best\u2010worst scaling choice experiments: The case of asthma control","volume":"1","author":"Najafzadeh M.","year":"2018","journal-title":"International Journal of Health Services"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.734878"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1664"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2014.04.011"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-015-9872-2"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40120-020-00226-z"},{"issue":"1","key":"e_1_2_10_15_1","first-page":"663","article-title":"The GM1 and GM2 Gangliosidoses: Natural history and progress toward therapy","volume":"13","author":"Regier D. 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