Empagliflozin as a Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency

Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · Oct 14, 2021

Keywords

ClinConnect Summary

This clinical trial is studying a medication called empagliflozin to see if it can help people with severe congenital neutropenia (SCN), a condition where the body doesn’t produce enough neutrophils, a type of white blood cell that helps fight infections. The trial is open to adults aged 18 and older who have SCN due to a specific genetic deficiency. Participants must have a consistently low count of neutrophils and agree to use two methods of birth control throughout the study.

During the trial, participants will undergo various tests, including physical exams and blood tests, and will take empagliflozin as a daily pill for 12 months. They will also have regular check-ins to monitor their health and any side effects. The total involvement in the study will last about 15 months, including a week-long admission at the National Institutes of Health (NIH) for initial monitoring. Participants may have the option to continue taking the medication through their local doctor after the study ends.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • 1. Aged \>=18 years.
• • 2. Documented SCN due to G6PC3 deficiency defined by genetic testing.
• • 3. History of ANC consistently \<1000 cells/microL when not treated with G-CSF.
• • 4. Current ANC\<1000 cells/microL when not treated with G-CSF.
• 5. Participants must agree not to become pregnant for the duration of the study. Study participants must use 2 methods of birth control when engaging in sexual activities that can result in pregnancy, beginning 30 days before the first dose of empagliflozin through one month after treatment ends. One method must be a male or female condom. The other method may be any of the following:
• • 1. Hormonal contraception.
• • 2. Diaphragm or cervical cap with a spermicide.
• • 3. Intrauterine device.
• • 6. Able to provide informed consent.
• EXCLUSION CRITERIA:
• Individuals meeting any of the following criteria will be excluded from study participation:
• • 1. Renal failure or eGFR\<45 mL/min/1.73 m\^2.
• • 2. Type 1 diabetes mellitus.
• • 3. Fasting hypoglycemia (\<60 mg/dL).
• • 4. Known hypersensitivity or allergy to any component of empagliflozin.
• • 5. Pregnant.
• • 6. Breastfeeding.
• • 7. Any condition that, in the opinion of the investigator, contraindicates participation in this study.