Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia

NCT ID: NCT04930627

Last Updated: 2021-06-23

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: PHASE2
• Total Enrollment: 20 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-07-31
• Study Completion Date: 2025-03-31

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®).

Conditions

Glucose 6 Phosphatase Deficiency

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

oral administration of Empagliflozin

Group Type: EXPERIMENTAL

Empagliflozin

Intervention Type: DRUG

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

Interventions

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

Intervention Type: DRUG

Other Intervention Names

Jardiance

Eligibility Criteria

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

• Minimum Eligible Age: 4 Weeks
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Department of Internal Medicine, Hypertension and Vascular Diseases, The Medical University of Warsaw

UNKNOWN

Sponsor Role: collaborator

Children's Memorial Health Institute, Poland

OTHER

Sponsor Role: lead

Responsible Party

Dariusz Rokicki

Pricipal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

The Children's Memorial Health Institute

Warsaw, , Poland

Countries

Poland

Facility Contacts

Magdalena Kaczor, MD

Role: primary

mwojtylo@o2.pl

+48227494

Other Identifiers

2021-000580-78

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

EMPAtia

Identifier Type: -

Identifier Source: org_study_id