Efficacy and Safety of Empagliflozin in GSD-Ib Patients

Glycogen Storage Disease Type IB Clinical Trial

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

Status Recruiting

Clinical Trial Summary

Empagliflozin Treatment of GSD-1b patients

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Disease
• Glycogen Storage Disease
• Glycogen Storage Disease Type I
• Glycogen Storage Disease Type IB

• NCT number: NCT05960617
• Study type: Interventional
• Source: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
• Contact: Wenjuan Qiu, MD PhD
• Phone: +86-21-25076466
• Email: qiuwenjuan@xinhuamed.com.cn
• Status: Recruiting
• Phase: Phase 2
• Start date: July 15, 2023
• Completion date: December 31, 2024