{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T22:23:05Z","timestamp":1769638985956,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In patients with glycogen storage disease type Ib (GSD Ib), quality of life is severely hampered by neutropenia and neutropenia\u2010associated symptoms. SGLT2 inhibitors are a new treatment option and have shown improved medical outcomes in more than 120 patients so far. The aim of this international questionnaire study was to assess patient\u2010reported outcomes of this new treatment in GSD Ib patients. Patients and caregivers of pediatric patients were invited to complete a web\u2010based questionnaire. This was designed to evaluate treatment effects of the SGLT2 inhibitor empagliflozin on clinical symptoms and important aspects of daily life including physical performance, sleep, social and work life, traveling, socioeconomic aspects, and quality of life. The questionnaire was completed by 73 respondents from 17 different countries. The mean duration of treatment was 15\u2009months, the cumulative treatment time was 94.8\u2009years. More than 80% of patients reported an improved quality of life. The number of hospitalizations was reduced (66% of patients), as well as the number of days absent from school or work. Granulocyte colony\u2010stimulating factor (G\u2010CSF) treatment could be stopped in 49% of patients and reduced in another 42%. Clear improvement of neutropenia and all neutropenia\u2010associated symptoms was reported by the majority of patients. Additionally, patients or caregivers reported positive effects on appetite (63%), level of activity (75%), overall well\u2010being (96%), and sleep (63%). Empagliflozin positively impacts many aspects of daily life including work and social life and thereby significantly improves quality of life of patients and caregivers.<\/jats:p>","DOI":"10.1002\/jmd2.12364","type":"journal-article","created":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T11:45:25Z","timestamp":1681904725000},"page":"252-258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Patient\u2010reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5986-0468","authenticated-orcid":false,"given":"Sarah C.","family":"Gr\u00fcnert","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine Medical Center\u2010University of Freiburg  Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annieke","family":"Venema","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamas","family":"LaFreniere","sequence":"additional","affiliation":[{"name":"Sophie's Hope Foundation (CureGSD1b)  Hopkinton Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blair","family":"Schneider","sequence":"additional","affiliation":[{"name":"Sophie's Hope Foundation (CureGSD1b)  Hopkinton Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrique","family":"Contreras","sequence":"additional","affiliation":[{"name":"Asociacion Espa\u00f1ola de Enfermos de Glucogenosis (Spanish Patient Organisation for Glycogen Storage Diseases)  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia B.","family":"Wortmann","sequence":"additional","affiliation":[{"name":"University Children's Hospital Salzburg, Paracelsus Medical University  Salzburg Austria"},{"name":"Amalia Children's Hospital, Radboudumc  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terry G. J.","family":"Derks","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,19]]},"reference":[{"key":"e_1_2_12_2_1","volume-title":"GeneReviews\u00ae","author":"Bali DS","year":"1993"},{"key":"e_1_2_12_3_1","first-page":"347","article-title":"Granulocyte colony\u2010stimulating factor corrects the neutropenia associated with glycogen storage disease type Ib","volume":"5","author":"Wang WC","year":"1991","journal-title":"Leukemia"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004465"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.04.001"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01503-8"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.1071464"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12295"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.5114\/aoms\/150029"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02345-2"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12278"},{"key":"e_1_2_12_12_1","article-title":"Repurposing of empagliflozin as a possible treatment for neutropenia and inflammatory bowel disease in glycogen storage disease type Ib: a case report","volume":"14","author":"Makrilakis K","year":"2022","journal-title":"Cureus"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14629"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-021-01100-w"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12304"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/08880018.2018.1440675"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10255"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200212000-00015"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-2-319"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2022.25.4.321"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12253"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02006-w"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12364","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T01:38:14Z","timestamp":1692668294000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12364"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,19]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1002\/jmd2.12364"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12364","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,19]]},"assertion":[{"value":"2023-02-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}