Clinical trial NCT04930627: Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia
Official title: Evaluation of Efficacy and Safety of Empagliflozin in Treatment of Neutropenia in Patients With Glycogenosis Ib
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: PHASE2
Conditions: Glucose 6 Phosphatase Deficiency
Lead sponsor: Children's Memorial Health Institute, Poland
Sponsor class: OTHER
Collaborators: name: Department of Internal Medicine, Hypertension and Vascular Diseases, The Medical University of Warsaw
First posted: 2021-06-18
Enrollment: 20
Sex: ALL
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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®).

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

Primary outcomes:
measure: Empaglifozin safety and tolerability measured by occurrence of adverse reactions
timeFrame: 2 years
Secondary outcomes:
measure: Efficacy of neutropenia treatment measured as percentage of the patients
timeFrame: 2 years
measure: Dosis change/withdrawal of filgrastrim
timeFrame: 2 years
measure: Degree of metabolic compensation
timeFrame: 2 years
Other outcomes:
Locations:
city: Warsaw
country: Poland
facility: The Children's Memorial Health Institute
Study officials:
References: