{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["20(1)"],"submitter":["Rodriguez MB"],"pubmed_abstract":["<h4>Background</h4>GM1 and GM2 (Tay-Sachs 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' perspectives by expanding knowledge on the day-to-day responsibilities of primary caregivers and the impacts experienced while providing care and support.<h4>Methods</h4>Focus groups (90-minute duration) were conducted with caregivers (≥ 18 years) under three separate categories based on the age of the individuals with GM1/GM2 gangliosidoses either in-person (attending Annual National Tay-Sachs & Allied Diseases Association [NTSAD] Confer"],"journal":["Orphanet journal of rare diseases"],"pagination":["597"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12632087"],"repository":["biostudies-literature"],"pubmed_title":["Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study."],"pmcid":["PMC12632087"],"pubmed_authors":["Rodriguez MB","Jussila D","Perez NG","Ng-Mak D","Heuer K","Krupnick R","Pulikottil-Jacob R","Gwaltney C","Waggoner C"],"additional_accession":[]},"is_claimable":false,"name":"Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study.","description":"<h4>Background</h4>GM1 and GM2 (Tay-Sachs 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' perspectives by expanding knowledge on the day-to-day responsibilities of primary caregivers and the impacts experienced while providing care and support.<h4>Methods</h4>Focus groups (90-minute duration) were conducted with caregivers (≥ 18 years) under three separate categories based on the age of the individuals with GM1/GM2 gangliosidoses either in-person (attending Annual National Tay-Sachs & Allied Diseases Association [NTSAD] Confer","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-05T17:27:55.996Z","creation":"2026-06-05T03:07:03.367Z"},"accession":"S-EPMC12632087","cross_references":{"pubmed":["41267078"],"doi":["10.1186/s13023-025-04030-6"]}}