Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia (EMPAtia)

Children's Memorial Health Institute, Poland

Status and phase: Not yet enrolling; Phase 2

Conditions: Glucose 6 Phosphatase Deficiency

Treatments: Drug: Empagliflozin

Study type: Interventional

Funder types: Other

Identifiers

NCT04930627

2021-000580-78 (EudraCT Number)

EMPAtia

Details and patient eligibility

About

Treatment of neutropenia of Glycogenosis type 1b patients with empagliflozin

Full 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®).

Enrollment: 20 estimated patients

Sex: All

Ages: 4+ weeks old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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20 participants in 1 patient group

oral administration of Empagliflozin

Experimental group

Treatment:

Drug: Empagliflozin