se of an antidiabetic drug (Empagliflozin) to lower the blood level of 1,5-anhydroglucitol in patients deficient in the glucose-6-phosphate transporter (GSD1b) and the phosphatase G6PC3, both of the endoplasmic reticulum, to treat their recurrent infections by normalizing their blood neutrophil counts. Neutrophils are the most abundant white blood cells in our blood that are essential to help fighting infections. 1,5-anhydroglucitol is a sugar derivative with no known function.

Phase 1

• Conditions: (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.; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2018-004191-35-BE
• Lead Sponsor: Cliniques universitaires Saint-Luc

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2019-03-05
• Last Update Posted: 23 October 2023

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 5

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

- 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.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified