Supported Research

Phase 1: Pilot Study of Metformin for Patients with Fanconi Anemia


Amount Funded: $686,848

Grant description:

Low blood counts due to bone marrow failure are a common complication of Fanconi anemia (FA) which affect health and quality of life. Metformin improves blood counts in mice with FA and may protect against DNA damage. Laboratory studies suggest that Metformin may be protective against aldehydes, which are toxic to FA mice and to FA patients. Metformin is an FDA-approved oral medication used for many decades to treat diabetes and insulin resistance. Metformin is currently being studied in other clinical trials as an anti-aging and anti-cancer drug, but it is not known how Metformin will affect people with FA. In this study which is opening at Boston Children’s Hospital, we want to learn whether Metformin improves blood counts in people with FA. You may be eligible for this study if you have FA and low blood counts, are between the ages of 6-35 years and have not had a hematopoietic stem cell transplant (bone marrow transplant). As a participant in this study, you will be provided with Metformin for 6 months. It is not known whether Metformin improves blood counts in patients with Fanconi anemia.

Grant follow-up:

The goal of this clinical trial was to determine whether the drug metformin was efficacious at improving blood counts and safe for non-diabetic patients with FA. The results from the study confirm that metformin is safe and tolerable for non-diabetic patients with FA and showed that 4 of the 13 patients who received metformin for at least one month had a favorable hematologic response, suggesting the drug may improve blood counts for a subset of patients with FA.

The research team recently published results from this clinical trial in the journal, Blood, and are working to develop a Phase II multi-institutional clinical trial.

Researchers: Akiko Shimamura