Treatment of Glycogen Storage Disease Type Ib with Empagliflozin

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

This study is testing if a medication called empagliflozin can help people with Glycogen Storage Disease Type Ib by improving their immune function and reducing symptoms.

Quick facts

• Phase: PHASE2
• Study type: Interventional
• Enrollment: 10 (estimated)
• Ages: 1 Year to 50 Years
• Sex: All
• Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine (other)
• Locations: 1 site (Shanghai, Shanghai)
• Trial ID: NCT05960617 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the efficacy and safety of empagliflozin, an SGLT2 inhibitor, in patients with Glycogen Storage Disease Type Ib (GSD-Ib). GSD-Ib is a rare genetic disorder characterized by neutropenia and related complications, which current treatments do not adequately address. The study aims to determine if empagliflozin can improve neutrophil function and reduce associated symptoms by inhibiting the reabsorption of glucose and 1,5-anhydroglucitol in the kidneys. Participants will be monitored for safety and effectiveness over the course of the trial.

Who should consider this trial

Good fit: Ideal candidates for this study are genetically diagnosed GSD-Ib patients aged between 1 and 50 years.

Not a fit: Patients with chronic kidney disease or severe hypoglycemia may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could significantly improve the management of neutropenia and related complications in GSD-Ib patients.

How similar studies have performed: While there is limited research specifically on empagliflozin for GSD-Ib, similar approaches using SGLT2 inhibitors have shown promise in other conditions.

Eligibility criteria

Inclusion Criteria:

1. Patients with glycogen storage disease type Ib (genetically diagnosed) aged ≥ 1 year and ≤ 50 years;
2. Patients meet the diagnostic criteria for Crohn's disease (CD) based on Expert consensus on the diagnosis and treatment of inflammatory bowel disease in Chinese children (2019) or Consensus opinion on the diagnosis and treatment of inflammatory bowel disease in China (2018), or patients meet the diagnostic criteria for recurrent respiratory tract infection based on Clinical diagnosis and treatment for recurrent respiratory tract infection in Chinese children (2022);
3. Subjects and their guardians/clients (\< 18 years old) or subjects (≥ 18 years old) signed the informed consent form.

Exclusion Criteria:

1. Patients with chronic kidney disease (eGFR \< 60 ml/min/1.73 m\^2) or cirrhosis (Metavir F4);
2. Experiencing symptomatic or severe hypoglycemia within 1 month before the start of this trial;
3. Absolute neutrophil count continued ≥ 1.5 × 10\^9/L (≥ 3 tests, each interval ≥ 5 days);
4. Current active urinary tract infection (until urine routine twice negative);
5. Participating other clinical investigators in the past 1 month;
6. Pregnancy, breast-feeding and having a pregnancy plan;
7. Presence of contraindications to empagliflozin therapy (hypersensitivity to empagliflozin, current or history of gangrene, history of recurrent urinary or genital infections);
8. Patients who are not suitable for participating in the clinical investigator or with low compliance in the investigator 's opinion.

Where this trial is running

Shanghai, Shanghai

• Xinhua Hospital, Shanghai Jiao Tong University School of Medicine — Shanghai, Shanghai, China (RECRUITING)

Study contacts

• Principal investigator: Wenjuan Qiu, MD PhD — Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
• Study coordinator: Wenjuan Qiu, MD PhD

Conditions: Glycogen Storage Disease Type IB