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

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ClinicalTrials.gov Identifier: NCT04930627
Recruitment Status : Not yet recruiting
First Posted : June 18, 2021
Last Update Posted : June 23, 2021
Department of Internal Medicine, Hypertension and Vascular Diseases, The Medical University of Warsaw
Information provided by (Responsible Party):
Dariusz Rokicki, Children's Memorial Health Institute, Poland

Brief Summary:
Treatment of neutropenia of Glycogenosis type 1b patients with empagliflozin

Condition or disease Intervention/treatment Phase
Glucose 6 Phosphatase Deficiency Drug: Empagliflozin Phase 2

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®).

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Evaluation of Efficacy and Safety of Empagliflozin in Treatment of Neutropenia in Patients With Glycogenosis Ib
Estimated Study Start Date : July 2021
Estimated Primary Completion Date : June 2024
Estimated Study Completion Date : March 2025

Arm Intervention/treatment
Experimental: oral administration of Empagliflozin 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
Other Name: Jardiance

Primary Outcome Measures :
  1. Empaglifozin safety and tolerability measured by occurrence of adverse reactions [ Time Frame: 2 years ]
    Empaglifozin saftey and tolerability measured by occurrence of adverse reactions

Secondary Outcome Measures :
  1. Efficacy of neutropenia treatment measured as percentage of the patients [ Time Frame: 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

  2. Dosis change/withdrawal of filgrastrim [ Time Frame: 2 years ]
    Dosis change/withdrawal of filgrastrim

  3. Degree of metabolic compensation [ Time Frame: 2 years ]
    measured as change of triglycerides (mg/dL), lactate (mg/dL), and uric acid (mg/dL) compared to the period before study

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Ages Eligible for Study:   4 Weeks and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04930627

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The Children's Memorial Health Institute
Warsaw, Poland, 04-730
Contact: Magdalena Kaczor, MD    +48227494    mwojtylo@o2.pl   
Principal Investigator: Dariusz Rokicki, MD PhD         
Sponsors and Collaborators
Children's Memorial Health Institute, Poland
Department of Internal Medicine, Hypertension and Vascular Diseases, The Medical University of Warsaw
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Responsible Party: Dariusz Rokicki, Pricipal Investigator, Children's Memorial Health Institute, Poland
ClinicalTrials.gov Identifier: NCT04930627    
Other Study ID Numbers: EMPAtia
2021-000580-78 ( EudraCT Number )
First Posted: June 18, 2021    Key Record Dates
Last Update Posted: June 23, 2021
Last Verified: June 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: No
Additional relevant MeSH terms:
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Glycogen Storage Disease Type I
Leukocyte Disorders
Hematologic Diseases
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Sodium-Glucose Transporter 2 Inhibitors
Molecular Mechanisms of Pharmacological Action
Hypoglycemic Agents
Physiological Effects of Drugs