NCT03398824

Pilot Study of Metformin for Patients With Fanconi Anemia

Completed Phase 2 Results posted Last updated 29 November 2022

What this trial tests

Phase 2 trial testing metformin HCl in Fanconi Anemia in 15 participants. Completed in 9 October 2020.

Timeline

29 March 2018

Primary endpoint
9 October 2020

9 October 2020

Quick facts

Lead sponsor	Boston Children's Hospital
Phase	Phase 2
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	15
Start date	29 March 2018
Primary completion	9 October 2020
Estimated completion	9 October 2020
Sites	1 location across United States

Drugs / interventions tested

• metformin HCl

Conditions studied

• Fanconi Anemia — all drugs for Fanconi Anemia →

Sponsor

Boston Children's Hospital

Who can join

Adults 6 to 35, any sex, with Fanconi Anemia. Patients with the condition only — healthy volunteers not accepted.

Results — posted to ClinicalTrials.gov

Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.

Hematologic Response Primary · 6 months

Hematologic response is defined by specific increases in erythroid, platelet, and neutrophil counts. Erythroid response: Hemoglobin (Hgb) increase by \>1.5g/dL for non-transfusion dependent patients and for patients who are transfusion dependent: Transfusion independence Only transfusions given for Hgb ≤8g/dL or for symptoms will be counted in the response evaluation Platelet response: If initially \<20k/uL to start, then must increase to \>20k/UL with an absolute increase of 100%. If initially ≥20k/uL to start, then must have an absolute increase of \>30k/UL Neutrophil response: If initial

Group	Value	95% CI
Treatment Arm	4

Adverse events — posted to ClinicalTrials.gov

Time frame: Study enrollment through 30 days after completion of treatment, up to 7 months. Reporting threshold: 5%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.

Treatment Arm

Serious: 0/14 (0%)

Deaths: 0/14

Other adverse events (1 terms — click to expand)

Reaction	System	Treatment Arm
Diarrhea	Gastrointestinal disorders	—

Data from ClinicalTrials.gov NCT03398824 adverse events section.

Sponsor's own description

This is a single institution, open-label, single arm pilot study of Metformin in patients with Fanconi Anemia (FA) and cytopenias with the primary endpoint of hematologic response. This study will also assess safety, tolerability, and the biologic effects of Metformin in patients with FA.

Publications & conference data

7 peer-reviewed publications reference this trial (live from Europe PMC):

1. Fanconi anemia and the underlying causes of genomic instability.
   Rageul J, Kim H. · · 2020 · cited 33× · PMID 31983075 · DOI 10.1002/em.22358
2. Senescent cells: A new Achilles' heel to exploit for cancer medicine?
   Zhang B, Lam EW, Sun Y. · · 2019 · cited 20× · PMID 30450821 · DOI 10.1111/acel.12875
3. Metformin for treatment of cytopenias in children and young adults with Fanconi anemia.
   Pollard JA, Furutani E, Liu S, Esrick E, et al · · 2022 · cited 14× · PMID 35500223 · DOI 10.1182/bloodadvances.2021006490
4. Head and Neck Cancer Susceptibility and Metabolism in Fanconi Anemia.
   Chihanga T, Vicente-Muñoz S, Ruiz-Torres S, Pal B, et al · · 2022 · cited 11× · PMID 35454946 · DOI 10.3390/cancers14082040
5. Methodology for the identification of small molecule inhibitors of the Fanconi Anaemia ubiquitin E3 ligase complex.
   Sharp MF, Murphy VJ, Twest SV, Tan W, et al · · 2020 · cited 8× · PMID 32409752 · DOI 10.1038/s41598-020-64868-7
6. High content drug screening for Fanconi anemia therapeutics.
   Montanuy H, Camps-Fajol C, Carreras-Puigvert J, Häggblad M, et al · · 2020 · cited 1× · PMID 32605631 · DOI 10.1186/s13023-020-01437-1
7. Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.
   Janczar S, Urbański B, Ussowicz M, Mlynarski W. · · 2026 · PMID 41859097 · DOI 10.3389/fimmu.2026.1773574