Metformin for treatment of cytopenias in children and young adults with Fanconi anemia

Jessica A. Pollard, Elissa Furutani, Shanshan Liu, Erica Esrick, Laurie E. Cohen, Jacob Bledsoe, Chih Wei Liu, Kun Lu, Maria Jose Ramirez de Haro, Jordi Surrallés, Maggie Malsch, Ashley Kuniholm, Ashley Galvin, Myriam Armant, Annette S. Kim, Kaitlyn Ballotti, Lisa Moreau, Yu Zhou, Daria Babushok, Farid BouladClint Carroll, Helge Hartung, Amy Hont, Taizo Nakano, Tim Olson, Sei Gyung Sze, Alexis A. Thompson, Marcin W. Wlodarski, Xuesong Gu, Towia A. Libermann, Alan D'Andrea, Markus Grompe, Edie Weller, Akiko Shimamura

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Fanconi anemia (FA), a genetic DNA repair disorder characterized by marrow failure and cancer susceptibility. In FA mice, metformin improves blood counts and delays tumor development. We conducted a single institution study of metformin in nondiabetic patients with FA to determine feasibility and tolerability of metformin treatment and to assess for improvement in blood counts. Fourteen of 15 patients with at least 1 cytopenia (hemoglobin < 10 g/dL; platelet count, 100 000 cells/mL; or an absolute neutrophil count, 1000 cells/mL) were eligible to receive metformin for 6 months. Median patient age was 9.4 years (range 6.0-26.5). Thirteen of 14 subjects (93%) tolerated maximal dosing for age; 1 subject had dose reduction for grade 2 gastrointestinal symptoms. No subjects developed hypoglycemia or metabolic acidosis. No subjects had dose interruptions caused by toxicity, and no grade 3 or higher adverse events attributed to metformin were observed. Hematologic response based on modified Myelodysplastic Syndrome International Working Group criteria was observed in 4 of 13 evaluable patients (30.8%; 90% confidence interval, 11.3-57.3). Median time to response was 84.5 days (range 71-128 days). Responses were noted in neutrophils (n = 3), platelets (n = 1), and red blood cells (n = 1). No subjects met criteria for disease progression or relapse during treatment.

Original languageEnglish (US)
Pages (from-to)3803-3811
Number of pages9
JournalBlood Advances
Issue number12
StatePublished - Jun 28 2022
Externally publishedYes

ASJC Scopus subject areas

  • Hematology


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