Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia

Phase 2

Not yet recruiting

• Conditions: Glucose 6 Phosphatase Deficiency
• Interventions: Drug: Empagliflozin

• Registration Number: NCT04930627
• Lead Sponsor: Children's Memorial Health Institute, Poland

Brief Summary

Treatment of neutropenia of Glycogenosis type 1b patients with empagliflozin

Detailed Description

Symptoms of glycogen storage disease type Ib (GSD Ib) include - among others - hypoglycemia, hepatomegaly and neutropenia with concomitant neutrophil dysfunction, which results in recurrent bacterial and fungal infections, and inflammatory bowel disease.

At present filgrastim is the only available drug to treat neutropenia in GSD Ib patients; it stimulates neutrophil production, but doesn't restore their function. Part of GSD Ib patients doesn't respond to filgrastim treatment. The latest research results showed, that neutropenia and neutrophil dysfunction in GSD Ib patients are results of extensive accumulation of 1,5-anhydroglucitol-phosphate. Empagliflozin, a SGLT2 inhibitor, inhibits renal glucose and 1,5-anhydroglucitol reabsorption and is an effective and safe method of treatment of neutropenia in this group of patients. Empagliflozin (Jardiance®) is a drug, which is registered in Poland to treat type II diabetes in adults. The aim of our study is to evaluate the efficacy and safety of neutropenia in patients with GSD Ib with empagliflozin (Jardiance®).

Study Timeline

• Status Verified: 2021-06
• Study First Submitted: 2021-06-11
• Study First Submitted QC: 2021-06-11
• Study First Posted: 2021-06-18
• Last Update Submitted: 2021-06-18
• Last Update Posted: 2021-06-23
• Study Start: 2021-07
• Primary Completion: 2024-06
• Study Completion: 2025-03

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• Minimum age 4 weeks old female Or Male
• GSD1b confirmed by genetic analysis with neutropenia and/or reduced respiratory burst
• Informed consent signed by the parents/assigns, and the recipient (>13 years old)

Exclusion Criteria

• Risk of non-compliance
• Chronic renal diseases (eGFR < 60 ml/min/1,73 m2)
• Active urinary tract infection (temporal criterion, up to recovery)
• Participation in another clinical trial (minimum 6 months from the end of participation until the date of signing the Informed Consent Form)
• Participation in therapeutic experiment, in addition to the experimental treatment with empagliflozin (minimum 12 months from the end of participation until the date of signing the Informed Consent Form)
• Pregnancy, breastfeeding
• Allergy to Empagliflozin
• Lack of informed consent

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
oral administration of Empagliflozin	Empagliflozin	-

Primary Outcome Measures

Name	Time	Method
Empaglifozin safety and tolerability measured by occurrence of adverse reactions	2 years	Empaglifozin saftey and tolerability measured by occurrence of adverse reactions

Secondary Outcome Measures

Name	Time	Method
Efficacy of neutropenia treatment measured as percentage of the patients	2 years	who achieved \>500 neutrophils/ml for at least 6 months with normalization of oxidative burst with decrease of bacterial and fungal infections compared to the period before study with decrease of hospitalization number with decrease of the number of defecation, gingival sores, and calprotectin average concentration in stool
Dosis change/withdrawal of filgrastrim	2 years	Dosis change/withdrawal of filgrastrim
Degree of metabolic compensation	2 years	measured as change of triglycerides (mg/dL), lactate (mg/dL), and uric acid (mg/dL) compared to the period before study

Trial Locations

Locations (1)

The Children's Memorial Health Institute; 🇵🇱 Warsaw, Poland