COMPLETED

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

Background: Severe congenital neutropenia (SCN) is an immune system disease. People with SCN do not have enough of a kind of white blood cell called neutrophils. This means they get sick easily from infections. Some drugs to treat SCN have lots of side effects. Researchers want to see if a the drug empagliflozin can help increase the number of neutrophils in a person with SCN. Objective: To see if a drug called empagliflozin can help people with SCN. Eligibility: Adults aged 18 and older with SCN. Design: Participants will be screened with a physical exam, medical history, and blood tests. They may have a pregnancy test. Participants will have study visits and local lab visits. They will repeat the screening tests. They will have heart and lung function tests. They will have an ultrasound of the liver and spleen. Their skin symptoms will be photographed. They may have consultations with specialists. They may give a stool sample. They may have an optional colonoscopy with tissue sample collection. They may have an optional bone marrow biopsy and aspirate. They may have an optional magnetic resonance imaging scan of their heart. Participants will be admitted to NIH for 5 7 days. They will start taking the study drug as a pill once daily. They will be monitored for side effects. Participants will take the study drug at home for 12 months. They will use a fingerstick blood glucose meter to measure blood sugar at home. Participants may be able to take the study drug through their local doctor after the study ends. Participation will last for 15 months.

Official Title

A Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency

Quick Facts

Study Start:2021-11-16
Study Completion:2025-05-21
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:COMPLETED

Study ID

NCT05078879

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years to 85 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Aged \>=18 years.
  2. 2. Documented SCN due to G6PC3 deficiency defined by genetic testing.
  3. 3. History of ANC consistently \<1000 cells/microL when not treated with G-CSF.
  4. 4. Current ANC\<1000 cells/microL when not treated with G-CSF.
  5. 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:
  6. 1. Hormonal contraception.
  7. 2. Diaphragm or cervical cap with a spermicide.
  8. 3. Intrauterine device.
  9. 6. Able to provide informed consent.
  1. 1. Renal failure or eGFR\<45 mL/min/1.73 m\^2.
  2. 2. Type 1 diabetes mellitus.
  3. 3. Fasting hypoglycemia (\<60 mg/dL).
  4. 4. Known hypersensitivity or allergy to any component of empagliflozin.
  5. 5. Pregnant.
  6. 6. Breastfeeding.
  7. 7. Any condition that, in the opinion of the investigator, contraindicates participation in this study.

Contacts and Locations

Principal Investigator

David H McDermott, M.D.
PRINCIPAL_INVESTIGATOR
National Institute of Allergy and Infectious Diseases (NIAID)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

  • David H McDermott, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-11-16
Study Completion Date2025-05-21

Study Record Updates

Study Start Date2021-11-16
Study Completion Date2025-05-21

Terms related to this study

Keywords Provided by Researchers

  • Glycogen metabolism
  • Jardiance
  • Inflammatory Bowe Disease (IBD)
  • G6PT deficiency
  • 1,5-AG

Additional Relevant MeSH Terms

  • Crohn's Disease
  • Glycogen Metabolism
  • Inflammatory Bowel Disease (IBD)