{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T21:03:03Z","timestamp":1789419783121,"version":"build-2803163510"},"reference-count":21,"publisher":"The Journal of Health Economics and Outcomes Research","issue":"1","license":[{"start":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T00:00:00Z","timestamp":1748390400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["jheor.org"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec id=\"background\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Glycogen storage disease type Ia (GSDIa) is a rare, inherited metabolic disorder characterized by a deficiency in glucose 6-phosphatase. People living with GSDIa are at high risk for clinical manifestations (including hypoglycemia and hepatomegaly) and clinical complications (including hyperlipidemia, stunted growth, liver adenomas, and renal failure). Evaluating symptom management and secondary care burdens is vital to understanding the patient experience and optimizing care pathways.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"objective\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We sought to quantify the number of patients with GSDIa within secondary care settings across England and to evaluate the burden of disease associated with living with GSDIa.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"methods\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study utilized the United Kingdom Hospital Episode Statistics (HES) database across a 69-month time period (April 2015\u2013December 2020) to investigate National Health Service (NHS) resource use and GSDIa mortality.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"results\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Patients (N\u2009=\u2009943) with GSDIa were identified. Frequent manifestations included anemia (n\u2009=\u2009421; 45%), hypoglycemia (n\u2009=\u2009185; 20%), and hepatomegaly (n\u2009=\u2009152; 16%). On average, patients had a total of 8 events\/year, including 2 elective events, 2 nonelective emergencies, 1 outpatient visit, and 3 daycase visits. In the entire HES population, there was approximately 1 (~60% elective, ~40% nonelective) event\/year. The highest total number of events across the entire patient journey tracked within the HES occurred with adolescents (12-17 years) who had an average of 28.5 events. Average length of stay was greatest in the pediatric infantile (0-2 years) population with 4.6 days and 3.4 days for nonelective and elective events, respectively. When benchmarked against the general population, patients with GSDIa had a mortality rate of 4.3%, compared with 0.9% for the entire HES population. The average age at mortality was 14.3 years lower for patients with GSDIa vs the entire HES population (63.7 years vs 78.0 years).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"discussion\">\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This study demonstrates high burden associated with GSDIa. Complications are a key driver of NHS resource use. Mortality associated with GSDIa in hospitalized patients is higher than the general population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"conclusions\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>GSDIa imposes a large burden on the healthcare system. There is a clear unmet need for patients with GSDIa, and complications are a substantial driver of resource use and burden of disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.36469\/001c.137126","type":"journal-article","created":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T10:08:28Z","timestamp":1748426908000},"update-policy":"https:\/\/doi.org\/10.36469\/00001","source":"Crossref","is-referenced-by-count":1,"title":["Investigating the Secondary Care System Burden of Glycogen Storage Disease Type Ia (GSDIa) Using the Hospital Episode Statistics Database"],"prefix":"10.36469","volume":"12","author":[{"given":"Eliza","family":"Kruger","sequence":"first","affiliation":[{"name":"Ultragenyx Pharmaceutical, Inc., Novato, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shreena","family":"Giblin","sequence":"additional","affiliation":[{"name":"IQVIA, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"22273","published-online":{"date-parts":[[2025,5,28]]},"reference":[{"issue":"8","key":"ref1","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1056\/NEJM197602192940805","article-title":"Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease","volume":"294","author":"H. L. Greene","year":"1976","journal-title":"N Engl J Med"},{"key":"ref2","article-title":"Hospital Episode Statistics (HES)","author":"NHS Digital"},{"key":"ref3","series-title":"GeneReviews\u00ae","article-title":"Glycogen storage disease type I. April 19, 2006. Updated October 14, 2021","author":"D. S. Bali","year":"1993"},{"issue":"11","key":"ref4","doi-asserted-by":"publisher","first-page":"3828","DOI":"10.3390\/nu13113828","article-title":"Glycogen storage disease type Ia: current management options, burden and unmet needs","volume":"13","author":"T. G. J. Derks","year":"2021","journal-title":"Nutrients"},{"issue":"1","key":"ref5","doi-asserted-by":"publisher","first-page":"13","DOI":"10.36469\/jheor.2025.125886","article-title":"Glycogen storage disease type Ia: a retrospective claims analysis of complications, resource utilization, and cost of care","volume":"12","author":"E. Kruger","year":"2025","journal-title":"J Health Econ Outcomes Res"},{"issue":"7","key":"ref6","doi-asserted-by":"publisher","first-page":"S424","DOI":"10.1016\/j.jval.2022.04.704","article-title":"Healthcare resource utilization among patients with glycogen storage disease type Ia (GSDIa) in the United States and the impact of COVID-19: a claims database analysis","volume":"25","author":"J. Nedzesky","year":"2022","journal-title":"Value Health"},{"key":"ref7","article-title":"Glycogen storage disease type I","author":"National Organization for Rare Disorders (NORD)"},{"issue":"4","key":"ref8","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1007\/s41669-023-00397-z","article-title":"Estimation of health utility scores for glycogen storage disease type Ia","volume":"7","author":"E. Kruger","year":"2023","journal-title":"Pharmacoeconomics Open"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"S341","DOI":"10.1016\/j.jval.2020.04.1292","article-title":"The humanistic burden of glycogen storage disease type Ia: the impact on symptoms, diet and health-related quality of life","volume":"23","author":"J. Butler","year":"2020","journal-title":"Value Health"},{"issue":"1","key":"ref10","doi-asserted-by":"publisher","first-page":"120","DOI":"10.36469\/001c.131811","article-title":"People and families affected by glycogen storage disease type Ia: an analysis of narrative accounts written by individuals living with GSDIa and their caregivers","volume":"12","author":"E. 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Rajas","year":"2019","journal-title":"Metabolites"},{"issue":"4","key":"ref20","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1111\/jhn.12030","article-title":"Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis","volume":"26","author":"K. K. Shah","year":"2013","journal-title":"J Hum Nutr Diet"},{"issue":"5","key":"ref21","doi-asserted-by":"publisher","first-page":"1272","DOI":"10.3945\/ajcn.2008.26352","article-title":"Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib","volume":"88","author":"C. E. Correia","year":"2008","journal-title":"Am J Clin Nutr"}],"container-title":["Journal of Health Economics and Outcomes Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jheor.org\/article\/137126-investigating-the-secondary-care-system-burden-of-glycogen-storage-disease-type-ia-gsdia-using-the-hospital-episode-statistics-database","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T20:04:18Z","timestamp":1789416258000},"score":1,"resource":{"primary":{"URL":"https:\/\/jheor.org\/article\/137126-investigating-the-secondary-care-system-burden-of-glycogen-storage-disease-type-ia-gsdia-using-the-hospital-episode-statistics-database"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,28]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.36469\/001c.137126","relation":{},"ISSN":["2327-2236"],"issn-type":[{"value":"2327-2236","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,28]]}}}