(1) Severe Congenital Neutropenia type 4 (SNC4) due to a deficiency in G6PC3, a phosphatase of the endoplasmic also known a Ubiquitous glucose-6-phosphatase and (2) the neutropenia in Glycogen Storage Disease type 1b due to a deficiency in the glucose-6-phosphate transporter (G6PT / SLC37A4) of the endoplasmic reticulum.
Conditions
Interventions
Trade Name: Jardiance
Product Name: Empagliflozin
Product Code: A10BK03
Pharmaceutical Form: Film-coated tablet
Sponsors
Cliniques universitaires Saint-Luc
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - Glycogenosis type 1b confirmed by biochemical analyzes and / or genetic analysis. - Alternatively, G6PC3 deficiency confirmed by genetic analysis - Informed consent signed by the recipient and / or parents / assigns. - Information and agreement of the referring medical team. Are the trial subjects under 18? yes Number of subjects for this age range: 5 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: - Presence of advanced fibrosis (Metavir F4) or cirrhosis. - Impossibility of long-term and / or non-compliance monitoring. - Other medical problems which, in the opinion of the physicians in charge of the patient, would constitute a contraindication to the procedure.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Ubiquitous glucose-6-phosphatase deficiency (G6PC3) and glucose-6-phosphate transporter deficiency (G6PT / SLC37A4) both cause neutropenia. The purpose of our trial is to test the effect of the effectiveness of Empagliflozin on the urinary excretion and elimination of 1,5-anhydroglucitol from the blood in patients with G6PT deficiency (GSD Ib) and those who are deficient in G6PC3. This should allow patients to significantly lower the level of the toxic compound 1,5-anhydroglucitol-6-phosphate, that we found to accumulate in their neutrophils, and thereby treat their neutropenia. Empagliflozin (marketed in Belgium as Jardiance®) belongs to the class of drugs known as oral hypoglycemic agents. This project is the outcome of the work from researchers and doctors looking after these patients to translate the results from fundamental research, to be soon published in PNAS (Veiga-da-Cunha et al.), into a clinical trial that will very likely benefit the patients.;Secondary Objective: Not applicable;Primary end point(s): -Safety: absence of hypoglycaemia due to gliflozin treatment. -Efficacy: Increased neutrophil count;Timepoint(s) of evaluation of this end point: Day 2, day 3, day 5, day 7, day 14, day 21, day 28, day 35, day 42, day 49, day 56 | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): -Efficacy: -Decrease in the number of infections -Decrease in the number of episodes of oral aphtosis (stomatitis) -Decrease of blood 1,5-anhydroglucitol -Decrease in the level of 1,5-anhydroglucitol-6-phosphate in neutrophils -Increased excretion of urinary 1,5-anhydroglucitol -Improved neutrophilic function -Improved platelet function;Timepoint(s) of evaluation of this end point: Day 2, day 3, day 5, day 7, day 14, day 21, day 28, day 35, day 42, day 49, day 56 | — |
Countries
Belgium
Contacts
Public Contactgastroentérologie-hépatologie pedia
Cliniques universitaires Saint-Luc
Outcome results
None listed