{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T09:23:45Z","timestamp":1763630625241,"version":"3.45.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>GM1 and GM2 (Tay\u2013Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative study aimed to understand the humanistic burden of GM1 and GM2 gangliosidoses from caregivers\u2019 perspectives by expanding knowledge on the day-to-day responsibilities of primary caregivers and the impacts experienced while providing care and support.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Focus groups (90-minute duration) were conducted with caregivers (\u2265\u200918 years) under three separate categories based on the age of the individuals with GM1\/GM2 gangliosidoses either in-person (attending Annual National Tay\u2013Sachs &amp; Allied Diseases Association [NTSAD] Conference, Colorado, July 2022) or online (recruited through the NTSAD and Cure GM1 Foundation during November\u2013December 2022).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>This study included 29 primary caregivers (mean [range] age: 49.0 [37.0\u201375.0] years) of individuals (children [24.1%], adolescents [31.0%], and adults [44.8%]) diagnosed with juvenile\/late-onset GM1 (41.4%) or GM2 (58.6%) gangliosidoses. The caregivers reported that most individuals required mobility aids (64.3%) and experienced speech difficulties (83.3%); they described their caregiving responsibilities as non-stop, pervasive, and often done without additional support, with marginal variance by disease type or patient age. Supporting activities of daily living was the most prominent responsibility (90.0%), followed by symptom\/care management (69.0%), ensuring quality of life (45.0%), and maintaining emotional (24.0%) and physical (10.0%) well-being. Caregiving impacted every facet of life; the caregivers reported 25 different impacts, with constant psychological burden (82.8%), physical ailments\/strain (62.1%), anxiety\/fear\/worry (58.6%), financial difficulties (58.6%), limited time for other family members (55.2%), and limitations on relationships outside family (51.7%) having the most significant effects. The caregivers relied mostly on patient advocacy organizations for resources and expressed the need for financial support, broader disease awareness, and disease-modifying treatments. Although providing care and support deleteriously impacted caregivers\u2019 lives, they reported experiencing positive impacts on relationship building, personal development, family cohesion, community support, and life outlook.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study showed a substantial humanistic burden with long-term impacts among the caregivers of individuals with GM1 and GM2 gangliosidoses. The findings provide important insights to enhance clinical care while advocating for the resources needed to improve caregivers\u2019 and patients\u2019 lives.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04030-6","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T09:21:00Z","timestamp":1763630460000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study"],"prefix":"10.1186","volume":"20","author":[{"given":"Maria Belen","family":"Rodriguez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Pulikottil-Jacob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karli","family":"Heuer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy Gabriela","family":"Perez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Waggoner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Jussila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chad","family":"Gwaltney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Krupnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisy","family":"Ng-Mak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,20]]},"reference":[{"issue":"Suppl 1","key":"4030_CR1","first-page":"663","volume":"13","author":"DS Regier","year":"2016","unstructured":"Regier DS, Proia RL, D\u2019Azzo A, Tifft CJ. 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All participants provided informed consent to participate in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"MBR, and DN-M are employees and may hold stock and\/or stock options in Sanofi. RP-J was an employee of Sanofi at the time of study conduct and may hold stock and\/or stock options in Sanofi. KH, NGP, and RK are employees of IQVIA, which received professional service fees from Sanofi for conducting this research. RK is the principal investigator of the study. CW is a member of the Cure GM1 Foundation, which receives sponsorships from Sanofi for their annual conference, and is a non-salaried volunteer. DJ is a paid staff member of the National Tay-Sachs & Allied Diseases Association (NTSAD), which receives support from Sanofi in the form of educational and programmatic grants. CG is the principal consultant at Gwaltney Consulting, which received consulting fees from Sanofi.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"597"}}