Impact of SGLT2 on Glucosuria in HNF1A-MODY

• Status: Recruiting
• Trial end date: 2023-01-02
• Target enrollment: 0
• Participant gender: All

Summary

Maturity onset diabetes of the young (MODY) is a subtype of diabetes which is caused by mutations in specific genes leading to diabetes. The most common cause of MODY is due to mutations in the gene hepatocyte nuclear factor 1 alpha (HNF1A) and is consequently named HNF1A-MODY (or MODY3). HNF1A-MODY is associated with urinary excretion of glucose at lower blood glucose levels compared to other types of diabetes. Normally, glucose is reabsorbed by sodium-glucose cotransporter 2 (SGLT2), but SGLT2 is downregulated due to the mutation in HNF1A. Investigators aim to evaluate the impact of the decreased expression of SGLT2 on glucosuria in patients with HNF1A-MODY compared to patients with type 2 diabetes (T2D) using a single dose of an SGLT2 inhibitor during a glucose clamp experiment.

• Phase: N/A
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Steno Diabetes Center Copenhagen
• Collaborator: University of Copenhagen
• Treatments: Empagliflozin

Criteria

Inclusion Criteria:

• Age ≥18 years

• HNF1A-MODY verified by genetic testing (only patients with HNF1A-MODY)

• Type 2 diabetes diagnosis according to World Health Organization (only patients with type 2 diabetes)

• Treatment with diet and/or a glucose-lowering drug (only patients with HNF1A-MODY)

• Normal haemoglobin (males 8.3-10.5 mmol/l, females 7.3-9.5 mmol/l)

• Informed consent

Exclusion Criteria:

• Nephropathy (estimated GFR <60 ml/min/1.73m2 and/or albuminuria)

• Known significant liver disease and/or plasma alanine aminotransferase (ALT) and/or plasma aspartate aminotransferase (AST) above 2 × normal values)

• Pregnancy or breastfeeding

• Treatment with SGLT2 inhibitor

• Fasting plasma glucose > 10 mmol/l

• Family history of HNF1A-MODY (only patients with type 2 diabetes)