Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia

Glucose 6 Phosphatase Deficiency Clinical Trial

— EMPAtia  

Official title:

Evaluation of Efficacy and Safety of Empagliflozin in Treatment of Neutropenia in Patients With Glycogenosis Ib

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04930627
• Other study ID #: EMPAtia
• Secondary ID: 2021-000580-78
• Status: Not yet recruiting
• Phase: Phase 2
• Start date: July 2021
• Est. completion date: March 2025

Study information

• Verified date: June 2021
• Source: Children's Memorial Health Institute, Poland
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

Treatment of neutropenia of Glycogenosis type 1b patients with empagliflozin

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®).

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 20
• Est. completion date: March 2025
• Est. primary completion date: June 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Glucose 6 Phosphatase Deficiency
• Glycogen Storage Disease Type I
• Neutropenia

Intervention

Drug:
• Empagliflozin
dosis depending on body weight: <20 kg 5 mg 1x/day; 20-40 kg 2 x 5 mg; >40 kg 2 x 10 mg

Locations

Country	Name	City	State
Poland	The Children's Memorial Health Institute	Warsaw

Sponsors (2)

Lead Sponsor	Collaborator
Children's Memorial Health Institute, Poland	Department of Internal Medicine, Hypertension and Vascular Diseases, The Medical University of Warsaw

Country where clinical trial is conducted

Poland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Empaglifozin safety and tolerability measured by occurrence of adverse reactions	Empaglifozin saftey and tolerability measured by occurrence of adverse reactions	2 years
Secondary	Efficacy of neutropenia treatment measured as percentage of the patients	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	2 years
Secondary	Dosis change/withdrawal of filgrastrim	Dosis change/withdrawal of filgrastrim	2 years
Secondary	Degree of metabolic compensation	measured as change of triglycerides (mg/dL), lactate (mg/dL), and uric acid (mg/dL) compared to the period before study	2 years