{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:48Z","timestamp":1791828588902,"version":"4.3.4"},"reference-count":23,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T00:00:00Z","timestamp":1704672000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T00:00:00Z","timestamp":1704672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Endocrinology"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>The purpose of this research was to collect data on the signs, symptoms, and impacts of GSD III from the perspective of adult patients and caregivers of individuals with GSD III.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>Online survey and qualitative interviews.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Following institutional review board approval, adult patients and caregivers of children with GSD III were recruited through advocacy networks and clinical sites. If eligible, participants were consented, screened, and sent a survey and\/or participated in a 60-min interview. The survey and interview included questions about family history, diagnosis, signs and symptoms, impacts, and management of GSD III. Conceptual models were developed following the analysis of results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>In all, 29 adults and 46 caregivers completed the online survey and\/or the interviews with 73 survey and 19 interview respondents. Adults and caregivers reported digestive, musculoskeletal, growth and physical appearance, and cardiac signs and symptoms. Liver conditions were reported by most respondents (83%). Adults and caregivers frequently reported impacts such as difficulty keeping up with peers (77%) and difficulty exercising\/difficulty with physical activity (53%). Hypoglycemia was frequently reported in both adults and children, with more than half reporting hospitalizations due to hypoglycemia. Caregivers focused on hypoglycemia when reporting signs\/symptoms that most interfere with their child\u2019s life and prevention of hypoglycemia as a desired outcome for an effective therapy. Adults most often reported muscle weakness as a top interfering symptom and the most important goal of a potential therapy. Impacts were also reported in activities of daily living, cognitive, emotional, work\/school, and sleep domains.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Individuals with GSD III experience a broad spectrum of symptoms and disease impacts. There is an unmet need for therapies that improve metabolic control, reduce the burden of dietary management, reduce fatigue and liver problems, and improve muscle strength and function.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/20420188231224233","type":"journal-article","created":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T06:01:15Z","timestamp":1704693675000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Glycogen storage disease type III: a mixed-methods study to assess the burden of disease"],"prefix":"10.1177","volume":"15","author":[{"given":"Ayla","family":"Evins","sequence":"first","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., 60 Leveroni Court, Novato, CA, 94949 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Mayhew","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tricia","family":"Cimms","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9367-4201","authenticated-orcid":false,"given":"Julie","family":"Whyte","sequence":"additional","affiliation":[{"name":"Endpoint Outcomes, A Lumanity Company, Boston, MA and Long Beach, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Vong","sequence":"additional","affiliation":[{"name":"Endpoint Outcomes, A Lumanity Company, Boston, MA and Long Beach, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Hribal","sequence":"additional","affiliation":[{"name":"Endpoint Outcomes, A Lumanity Company, Boston, MA and Long Beach, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Evans","sequence":"additional","affiliation":[{"name":"Endpoint Outcomes, A Lumanity Company, Boston, MA and Long Beach, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Grimm","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,1,8]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9756-x"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.140840"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0045-x"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000484776"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.3233\/TRD-160006"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajg.2014.01.013"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9932-2"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e655b6"},{"key":"e_1_3_4_10_2","volume-title":"The discovery of grounded theory: strategies for qualitative research","author":"Glaser BG","year":"1967","unstructured":"Glaser BG, Strauss AL. The constant comparative method of qualitative analysis. In: The discovery of grounded theory: strategies for qualitative research. New York: Aldine de Gruyter, 1967, pp. 101\u201315."},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.4135\/9781446221792.n3"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-010-9677-6"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1177\/0049124113500475"},{"key":"e_1_3_4_14_2","first-page":"1","article-title":"Food and Drug Administration","author":"US Department of Health and Human Services","year":"2019","unstructured":"US Department of Health and Human Services, Food and Drug Administration. Rare diseases: common issues in drug development guidance for industry draft guidance. 2019; Revision 1: 1\u201327.","journal-title":"Rare diseases: common issues in drug development guidance for industry draft guidance"},{"key":"e_1_3_4_15_2","unstructured":"US Department of Health and Human Services Food and Drug Administration. Patient-focused drug development: collecting comprehensive and representative input guidance for industry food and drug administration staff and other stakeholders [Internet] pp. 1\u201328 https:\/\/www.fda.gov\/media\/139088\/download (2020 accessed 8 April 2022)."},{"key":"e_1_3_4_16_2","unstructured":"US Department of Health and Human Services Food and Drug Administration. Guidance for industry: patient-reported outcomes measures: use in medical product development to support labeling claims pp. 1\u201330 https:\/\/www.fda.gov\/media\/77832\/download (2009 accessed 8 April 2022)."},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s41687-018-0043-8"},{"key":"e_1_3_4_18_2","unstructured":"US Department of Health and Human Services Food and Drug Administration. Patient-focused drug development: methods to identify what is important to patients 2022. https:\/\/www.fda.gov\/media\/131230\/download"},{"key":"e_1_3_4_19_2","unstructured":"Schreuder AB Rossi A Gr\u00fcnert SC et al. Glycogen storage disease type III GeneReviews\u2122 [Internet] Seattle University Washington Seattle 2022."},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2546-0"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181cd735b"},{"key":"e_1_3_4_22_2","first-page":"100821","article-title":"A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III","volume":"29","author":"Hijazi G","year":"2021","unstructured":"Hijazi G, Paschall A, Young SP, et al. A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III. Mol Genet Metab Rep 2021; 29: 100821.","journal-title":"Mol Genet Metab Rep"},{"key":"e_1_3_4_23_2","first-page":"1","volume-title":"The discovery of grounded theory: strategies for qualitative research","author":"Glaser BG","year":"1967","unstructured":"Glaser BG, Strauss AL. The discovery of grounded theory. 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