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[Short-term efficacy of empagliflozin in children with glycogen storage disease type Ⅰb]
1Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Insights
Empagliflozin shows short-term benefits for glycogen storage disease type Ib (GSD Ib), improving symptoms like abdominal pain and recurrent infections while reducing neutropenia. The treatment demonstrated favorable safety in a small patient cohort.
Area of Science:
- Metabolic disorders
- Pediatric endocrinology
- Pharmacology
Context:
- Glycogen storage disease type Ib (GSD Ib) is a rare genetic disorder characterized by impaired glucose metabolism and recurrent infections.
- Current management strategies for GSD Ib often involve frequent medical interventions and can be associated with significant morbidity.
- Neutropenia is a common complication in GSD Ib, increasing susceptibility to infections.
Purpose:
- To evaluate the short-term efficacy and safety of empagliflozin in pediatric patients diagnosed with GSD Ib.
- To assess the impact of empagliflozin on clinical symptoms, neutrophil counts, and plasma 1,5-anhydroglucitol (1,5AG) levels in GSD Ib patients.
Summary:
- A prospective, open-label study involving four pediatric GSD Ib patients treated with empagliflozin.
- Empagliflozin treatment led to improvements in gastrointestinal symptoms (diarrhea, abdominal pain), oral ulcers, and reduced infection frequency.
- Observed increases in neutrophil counts and decreases in plasma 1,5AG levels were noted, with no significant adverse events reported.
Impact:
- Empagliflozin demonstrates potential as a therapeutic option for managing GSD Ib, offering symptomatic relief and mitigating complications like neutropenia.
- The favorable safety profile suggests empagliflozin could be a valuable addition to the treatment regimen for GSD Ib.
- Further research with larger cohorts is warranted to confirm these promising short-term findings.
Abstract:
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.
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