Using empagliflozin to treat severe congenital neutropenia caused by G6PC3 deficiency
A Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency
This study is testing if the medication empagliflozin can help adults with severe congenital neutropenia caused by G6PC3 deficiency by increasing their white blood cell counts and lowering their risk of infections.
Quick facts
| Phase | Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 10 (estimated) |
| Ages | 18 Years to 85 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT05078879 on ClinicalTrials.gov |
What this trial studies
This clinical trial aims to evaluate the safety, tolerability, and efficacy of empagliflozin, a sodium glucose co-transporter 2 inhibitor, in adults with severe congenital neutropenia (SCN) due to G6PC3 deficiency. Participants aged 18 and older will undergo a two-phase regimen, starting with a daily dose of 10 mg of empagliflozin for two months, with the possibility of increasing the dose to 25 mg if necessary. The study will involve various assessments, including blood tests, heart and lung function tests, and consultations with specialists to monitor the effects of the drug on neutrophil levels. The goal is to determine if empagliflozin can effectively increase neutrophil counts and reduce the risk of infections in these patients.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18 and older with documented severe congenital neutropenia due to G6PC3 deficiency.
Not a fit: Patients with renal failure or type 1 diabetes mellitus will not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve the immune response in patients with severe congenital neutropenia, reducing their susceptibility to infections.
How similar studies have performed: While this approach is novel in the context of treating SCN, similar studies using empagliflozin for other conditions have shown promising results.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: David H McDermott, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Daniel Velez, R.N.
- Email: daniel.velez@nih.gov
- Phone: (301) 761-6753
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.