Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia

Children's Memorial Health Institute, Poland20 enrolled

Overview

Treatment of neutropenia of Glycogenosis type 1b patients with empagliflozin

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 Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Glucose 6 Phosphatase Deficiency

Interventions

EmpagliflozinDRUG

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

Eligibility

Sex: ALLMin age: 4 Weeks

Medical Language ↔ Plain English

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

Locations (1)

The Children's Memorial Health Institute

Warsaw, Poland

Outcomes

Primary Outcomes

Empaglifozin safety and tolerability measured by occurrence of adverse reactions

Empaglifozin saftey and tolerability measured by occurrence of adverse reactions

Time frame: 2 years

Secondary Outcomes

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

Time frame: 2 years

Dosis change/withdrawal of filgrastrim

Time frame: 2 years

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

Time frame: 2 years

Data from ClinicalTrials.gov

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