Oral Metformin for Treatment of ABCA4 Retinopathy

Running, not enrolling · Phase 1/Phase 2

Conditions studied: ABCA4 Retinopathy, Stargardt Disease, Retinal Dystrophy, Retinal Degeneration

In brief

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....

Key facts

Study ID

NCT04545736

Run by

National Eye Institute (NEI)

People needed

55

Starts

2020-11-23

Expected to finish

2029-02-02

Last updated by the study team

2026-08-10

Who can join

Age: 12 and older, up to 100. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• An individual who meets any of the following criteria will be excluded from participation in this study:
• Participant is actively receiving study IP in another investigational study.
• Participant has a condition that would preclude participation in the study (e.g., unstable medical status including blood pressure and glycemic control) by interfering with the participant s ability to engage in the required protocol evaluation and testing and/or comply with study visits.
• Any female participant of childbearing potential that is pregnant or breast-feeding at the time of enrollment or planning to become pregnant during the study.
• Participant has definitive pathogenic or likely pathogenic mutations in RDS/peripherin (PRPH2), PROM1, and/or ELOVL4.
• Participant has a history of chronic renal impairment as measured in the acute care panel estimated glomerular filtration rate (eGFR)<45 ml/min/1.73 m2) or severe hepatic, pulmonary, or cardiovascular disease (hypoxic state).
• Participant is taking any medication that could adversely interact with metformin (e.g., cimetidine, furosemide, nifedipine) and cannot switch to an alternative medication.
• Participant is currently taking metformin or participant has taken metformin during the period of natural history data collection that will be used for this study for a cumulative total of more than one month (> 31 days).
• Participant has a known hypersensitivity to metformin.
• Participant has not stopped taking a glucagon-like peptide 1 (GLP-1) agonist at least two weeks prior to enrollment or is currently taking a GLP-1 agonist.
• Participant has a history of chronic lactic acidosis, including diabetic ketoacidosis, with or without coma.
• Participant has type 1 diabetes mellitus.
• Scarring due to choroidal neovascularization (CNV) is present in either eye.
• QUALIFYING EYE ELIGIBILITY CRITERIA:
• In order to participate in the study, the participant must have at least one qualifying eye that meets all of the inclusion and none of the exclusion criteria listed below.
• Qualifying Eye Inclusion Criteria:
• A growth rate of square root AreaEZloss > 0.025 mm/year based on calculation from natural history data.
• Qualifying Eye Exclusion Criteria:
• Retinal degeneration has advanced beyond a point where reliable measurement of the integrity of the IS-OS on OCT is possible.

Where it is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States
• University of Michigan — Ann Arbor, Michigan, United States

Full record on ClinicalTrials.gov

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