NCT05960617

Efficacy and Safety of Empagliflozin in GSD-Ib Patients

Efficacy and Safety of Empagliflozin in Patients With Glycogen Storage Disease Type Ib

• Status: Unknown
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 10 (estimated)
• Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine · Academic / Other
• Sex: All
• Age: 1 Year – 50 Years
• Healthy volunteers: Not accepted

Summary

Empagliflozin Treatment of GSD-1b patients

Detailed description

Glycogen storage disease type Ib (GSD-Ib) is a type of genetic disease with a prevalence of approximately 1 in 500,000. In addition to phenotypes common to GSD-I such as hypoglycemia, hypoglycemia, lactatemia, hyperlipidemia, hyperuricemia, and hepatomegaly, GSD-Ib patients also experience neutropenia and dysfunction, causing infections and inflammatory bowel disease (IBD). At present, the only available treatment for neutropenia in GSD-Ib patients is subcutaneous injection of granulocyte-colony stimulating factor (G-CSF). G-CSF increases the number of neutrophils, but does not improve neutrophil dysfunction, and is also associated with the risk of concurrent splenomegaly and malignancy. The most recent research findings demonstrated that substantial accumulation of 1,5-anhydroglucitol-phosphate is the cause of neutropenia and neutrophil dysfunction in GSD Ib patients. Empagliflozin, an SGLT2 inhibitor, is an efficient and secure approach of treating neutropenia in these patients by inhibiting renal glucose and 1,5-anhydroglucitol reabsorption. Our study's objective is to assess the efficacy and safety of empagliflozin (Jardiance®) in patients with GSD Ib.

Conditions

• Glycogen Storage Disease Type IB

Interventions

Type	Name	Description
DRUG	Empagliflozin	Oral administration of Empagliflozin: The starting dose was 0.3 mg/kg/day in 2 divided doses for 3 months. If the subject had an absolute neutrophil count \> 1.0 × 10\^9/L and clinical improvement (decreased number of infections and/or decreased IBD activity within 3 months), the maintenance dose was maintained. If the subject had an absolute neutrophil count \< 1.0 × 10\^9/L but clinical improvement (decreased number of infections and/or decreased IBD activity within 3 months), the maintenance dose was maintained and reassessed 1 month later. If the subject had an absolute neutrophil count \< 1.0 × 10\^9/L and no clinical improvement (no change in number of infections and/or no change in IBD activity within 3 months), the dose was increased by 0.1 mg/kg/day and reassessed 3 months later. Assessments were then performed every 3 months with the same dose modification criteria as above.

Timeline

• Start date: 2023-07-15
• Primary completion: 2024-06-30
• Completion: 2024-12-31
• First posted: 2023-07-27
• Last updated: 2023-07-27

Locations

1 site across 1 country: China