Objective: To analyze the short-time efficacy of
empagliflozin in the treatment of
glycogen storage disease type Ⅰb (GSD Ⅰb). Methods: In this prospective open-label single-arm study, the data of 4 patients were collected from the pediatric department in Peking Union Medical College Hospital from December 2020 to December 2022. All of them were diagnosed by gene sequencing and had
neutropenia. These patients received
empagliflozin treatment. Their clinical symptoms such as height and weight increase,
abdominal pain,
diarrhea,
oral ulcer,
infection times, and
drug applications were recorded at 2 weeks, 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, and 15 months
after treatment to assess the
therapeutic effect. The liquid chromatography-tandem mass spectrometry method was used to monitor the changes in 1, 5-anhydroglucitol (1, 5AG) concentration in plasma. At the same time, adverse reactions such as
hypoglycemia and
urinary tract infection were closely followed up and monitored. Results: The 4 patients with GSD Ⅰb were 15, 14, 4 and 14 years old, respectively at the beginning of
empagliflozin treatment, and were followed up for 15, 15, 12 and 6 months, respectively. Maintenance dose range of
empagliflozin was 0.24-0.39 mg/(kg·d). The frequency of
diarrhea and
abdominal pain decreased in cases 2, 3, and 4 at 1, 2 and 3 months of treatment, respectively. Their height and weight increased at different degrees.The absolute count of neutrophils increased from 0.84×109, 0.50×109, 0.48×109, 0.48×109/L to 1.48×109, 3.04×109, 1.10×109, 0.73×109/L, respectively.
Granulocyte colony-stimulating factor was gradually reduced in 1 patients and stopped in 3 patient. Plasma 1, 5 AG levels in 2 children were significantly decreased after administration of
empagliflozin (from 46.3 mg/L to 9.6 mg/L in case 2, and from 56.1 mg/L to 15.0 mg/L in case 3). All 4 patients had no adverse reactions such as
hypoglycemia, abnormal liver or kidney function, or urinary system
infection. Conclusion: In short-term observation,
empagliflozin can improve the symptoms of GSD Ⅰb
oral ulcers,
abdominal pain,
diarrhea, and
recurrent infection, also can alleviate
neutropenia and decrease 1, 5AG concentration in plasma, with favorable safety.