Actively Recruiting
Oral Metformin for Treatment of ABCA4 Retinopathy
Led by National Eye Institute (NEI) · Updated on 2026-05-12
56
Participants Needed
2
Research Sites
409 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: ABCA4 retinopathy is a genetic disease in which the ABCA4 protein is absent or faulty. It can cause waste material to collect in the eye and may cause cells to die. The cell death can lead to vision loss. Researchers want to see if an oral drug called metformin can help. Objective: To see if metformin is safe and possibly helps to slow the rate of ABCA4 retinopathy. Eligibility: People age 12 and older who have ABCA4 retinopathy and have problems with their vision. Design: Participants will be screened under a separate protocol. Participants will have a medical and family history. They will complete a questionnaire about their vision and daily activities. They will have a physical exam. They may have blood drawn through a needle in the arm. Participants will have an eye exam. Their pupils may be dilated with eye drops. Their retina may be photographed. Participants will have a visual field test. They will sit in front of a large dome and press a button when they see a light within the dome. Participants will have an electroretinogram. It examines the function of the retina. They will sit in the dark for 30 minutes. Then their eyes will be numbed with eye drops. They will wear contact lenses that can sense signals from the retinas. They will watch flashing lights. Participants will have optical coherence tomography. This non-invasive procedure makes pictures of the retina. Participants will have fundus autofluorescence. A bright blue light will be shone into their eye. Participants will take metformin by mouth for 24 months. Participants will have study visits every 6 months. Participation will last for at least 36 months....
CONDITIONS
Official Title
Oral Metformin for Treatment of ABCA4 Retinopathy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant must be at least 12 years old.
- Participant or legal guardian must understand and sign informed consent.
- Participant must have at least one definite pathogenic or likely pathogenic mutation in ABCA4 with typical Stargardt disease presentation in both eyes.
- Participant must have at least two years of natural history data from at least four data points spaced at least six months apart.
- Participant must agree to follow lifestyle considerations during the study.
- Female participants of childbearing potential must have a negative urine pregnancy test at screening and agree to pregnancy testing during the study.
- Female participants of childbearing potential must use surgical sterilization, abstain from intercourse, or practice contraception during and for at least one week after treatment.
- Male participants must use surgical sterilization, abstain from intercourse, or practice contraception during and for at least three months after treatment.
You will not qualify if you...
- Participant is currently receiving investigational treatment in another study.
- Participant has unstable medical conditions that interfere with participation or compliance.
- Female participants who are pregnant, breastfeeding, or planning pregnancy during the study.
- Participant has pathogenic mutations in RDS/peripherin (PRPH2), PROM1, or ELOVL4.
- Participant has chronic kidney impairment (eGFR <45 ml/min/1.73 m2) or severe liver, lung, or heart disease.
- Participant takes medications that interact with metformin and cannot switch.
- Participant is currently taking metformin or took it for more than one month during natural history data collection.
- Participant is allergic to metformin.
- Participant has not stopped GLP-1 agonist medication at least two weeks before enrollment or is currently taking it.
- Participant has a history of chronic lactic acidosis or diabetic ketoacidosis.
- Participant has type 1 diabetes mellitus.
- Scarring from choroidal neovascularization is present in either eye.
- Retinal degeneration is too advanced for reliable OCT measurement of the photoreceptor layer integrity.
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
University of Michigan
Ann Arbor, Michigan, United States, 48109-0624
Actively Recruiting
Research Team
C
Catherine Kangale Whitney, R.N.
CONTACT
B
Brian P Brooks, M.D.
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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