Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study

Neutrophil dysfunction and neutropenia are burdensome findings in glycogen storage disease type Ib (GSDIb). Treatment with granulocyte-colony stimulating factor (G-CSF) often corrects neutropenia but fails to improve clinical symptoms like inflammatory bowel disease (IBD). Recently, empagliflozin (EMPA) was shown to correct the neutrophil dysfunction and its clinical consequences. It is increasingly used as first-line monotherapy, but long-term, real-world data are lacking. This nation-wide retrospective study investigated 42 GSD1b patients (36 children) treated with EMPA as first-line monotherapy and compared them with those receiving combination therapy with G-CSF and treatment-naïve patients (I:EMPA first-line monotherapy [n = 9]; II:G-CSF monotherapy [n = 7]; III:EMPA plus G-CSF [n = 16]; and IV: neither EMPA nor GCSF [n = 10]). Pediatric (P) patients were evaluated separately. In pediatric patients receiving EMPA as first-line monotherapy (P-I) and those with EMPA plus G-CSF (P-III), the frequency of infections, hospital admissions, and IBD was significantly lower than in patients receiving GCSF-monotherapy (P-II) or no treatment (P-IV). Additionally, significantly improved weight gain was observed in P-I. While clinical improvement related to correction of neutrophil dysfunction was seen with EMPA first-line monotherapy (P-I), significant improvement in absolute neutrophil count (ANC) and hemoglobin levels was only seen in P-III with additional G-CSF treatment. In three cases, EMPA was safely paused and subsequently resumed, for example, during pregnancy or liver transplantation. First-line EMPA monotherapy effectively corrects clinical symptoms of neutrophil dysfunction in GSD Ib patients, even in the absence of a statistically significant increase in ANC.

Authors

Institutions

Publication Details

Journal
Journal of Inherited Metabolic Disease
Published
2026-05-01
DOI
https://doi.org/10.1002/jimd.70198
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study

Tanyel Zübarioğlu, Canan Albayrak, Ayşe Çiğdem Aktuğlu Zeybek, Ayça Burcu Kahraman et al.
Journal of Inherited Metabolic Disease
Glycogen Storage Diseases and Myoclonus
article

Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study

Tanyel Zübarioğlu, Canan Albayrak, Ayşe Çiğdem Aktuğlu Zeybek, Ayça Burcu Kahraman, Aynur Küçükçongar Yavaş, Pelin Teke Kısa, Ertuğrul Kıykım, Fatih Kardaş, Sebile Kılavuz, Ezgi Burgaç, Şebnem Kılıç, Ayşegül Ünüvar, Fatma Derya Bulut, Havva Yazıcı, Meryem Albayrak, Tuba Hilkay Karapınar, Meryem Karaca, Kısmet Çıkı, Merve Yoldaş Çelik, Deniz Yılmaz Karapınar, Alperen Elek, Fehime Erdem Karapınar, Seda Gunes, Sema Kalkan Uçar, Hanım Aghakishili, Gülden Fatma Gökçay, Neslihan Önenli Mungan, Nihal Kardaş, Emine Genç, Deniz Kor, Ebru Canda, Saskia B. Wortmann, Ekrem Ünal
article en

Abstract

Neutrophil dysfunction and neutropenia are burdensome findings in glycogen storage disease type Ib (GSDIb). Treatment with granulocyte-colony stimulating factor (G-CSF) often corrects neutropenia but fails to improve clinical symptoms like inflammatory bowel disease (IBD). Recently, empagliflozin (EMPA) was shown to correct the neutrophil dysfunction and its clinical consequences. It is increasingly used as first-line monotherapy, but long-term, real-world data are lacking. This nation-wide retrospective study investigated 42 GSD1b patients (36 children) treated with EMPA as first-line monotherapy and compared them with those receiving combination therapy with G-CSF and treatment-naïve patients (I:EMPA first-line monotherapy [n = 9]; II:G-CSF monotherapy [n = 7]; III:EMPA plus G-CSF [n = 16]; and IV: neither EMPA nor GCSF [n = 10]). Pediatric (P) patients were evaluated separately. In pediatric patients receiving EMPA as first-line monotherapy (P-I) and those with EMPA plus G-CSF (P-III), the frequency of infections, hospital admissions, and IBD was significantly lower than in patients receiving GCSF-monotherapy (P-II) or no treatment (P-IV). Additionally, significantly improved weight gain was observed in P-I. While clinical improvement related to correction of neutrophil dysfunction was seen with EMPA first-line monotherapy (P-I), significant improvement in absolute neutrophil count (ANC) and hemoglobin levels was only seen in P-III with additional G-CSF treatment. In three cases, EMPA was safely paused and subsequently resumed, for example, during pregnancy or liver transplantation. First-line EMPA monotherapy effectively corrects clinical symptoms of neutrophil dysfunction in GSD Ib patients, even in the absence of a statistically significant increase in ANC.

Journal of Inherited Metabolic DiseaseVol. 49(3)
Ministry of Health (TR), University of Turku (FI), Dokuz Eylül University (TR), Ondokuz Mayıs University (TR), Paracelsus Medical University (AT), Konya Food and Agriculture University (TR), Ege University (TR), Dr. Behçet Uz Çocuk Hastalıkları Hastanesi (TR), Memorial Ankara Hospital (TR), Istanbul University-Cerrahpaşa (TR), Konya Eğitim ve Araştırma Hastanesi (TR), Education Training And Research (US), Başkent University Hospital (TR), Sağlık Bilimleri Üniversitesi (TR), Hasan Kalyoncu University (TR), Cukurova University (TR), Hacettepe University (TR), Istanbul University (TR), Marmara University (TR), Harran University (TR), Erciyes University (TR)
Good health and well-being
Openalex Percentile: Top 8%
Glycogen Storage Diseases and Myoclonus
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.