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Pilot Study of Metformin for Patients With Fanconi Anemia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03398824
Recruitment Status : Completed
First Posted : January 16, 2018
Last Update Posted : October 14, 2020
Information provided by (Responsible Party):
Elissa Furutani, MD, Boston Children's Hospital

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Fanconi Anemia Drug: metformin HCl Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 15 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Pilot Study of Metformin for Patients With Fanconi Anemia
Actual Study Start Date : March 29, 2018
Actual Primary Completion Date : October 9, 2020
Actual Study Completion Date : October 9, 2020

Arm Intervention/treatment
Experimental: Treatment arm
Receive metformin HCl
Drug: metformin HCl
Receive metformin HCl

Primary Outcome Measures :
  1. Improved hematologic response [ Time Frame: 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 initially <500/uL to start, then must increase to >500/uL with an absolute increase of > 250/uL. If initially ≥500/uL to start, then must have an absolute increase of >500/uL

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years to 35 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Age > 6 years and ≤35 years
  • Lansky/Karnofsky performance status ≥ 50% for patients ≥16 years of age and Lansky ≥ 50% for patients <16 years of age (see Appendix A)
  • Diagnosis requirement
  • Participants must have a clinical diagnosis of Fanconi Anemia.

    • Participants must have confirmed diepoxybutane-mitomycin C (DEB/MMC) stress testing to document diagnosis of Fanconi Anemia.
    • Patients must have at least one of the following cytopenias: Hemoglobin <10g/dL; Platelets <100k/uL; Absolute neutrophil count <1000/uL
  • Participants must have normal organ function as defined below:

    • Hepatic Function : Total bilirubin ≤ 1.5 x upper limit of normal for age; alanine aminotransferase (ALT)/aspartate aminotransferase (AST) ≤ 135 U/L
    • Renal Function: A serum creatinine based on age/gender as follows:

Age Maximum Serum Creatinine (mg/dL) Male Female

  1. to < 2 years 0.6 0.6
  2. to < 6 years 0.8 0.8

6 to < 10 years 1 1 10 to < 13 years 1.2 1.2 13 to < 16 years 1.5 1.4

≥ 16 years 1.7 1.4


• Creatinine clearance ≥ 60 mL/min/1.73 m2 for participants with creatinine levels above institutional normal

  • Normal cardiac status as documented clinically, otherwise they will need an echocardiogram prior to enrollment
  • Serum bicarbonate must be >17.
  • Participants of child-bearing or child-fathering potential must agree to use adequate contraception (hormonal birth control; intrauterine device; double barrier method; or total abstinence) throughout their participation, including up until 30 days after last dose of Metformin.
  • Patients must be able to swallow pills.
  • Ability to understand and/or the willingness of the patient (or parent or legally authorized representative, if minor) to provide informed consent, documented using an institutionally approved informed consent procedure

Exclusion Criteria:

  • Patients must not have undergone prior bone marrow transplantation.
  • Patients must not have very severe aplastic anemia at the time of enrollment which would require bone marrow transplantation (as defined by at least 2 out of the following 3: Absolute Neutrophil Count (ANC) <200k/uL, platelets <20k/uL, absolute reticulocyte count <40k/uL).
  • Patients must not be taking any other concurrent medications to improve their hematopoiesis such as androgens or growth factors such as Granulocyte colony-stimulating factor (G-CSF), erythropoietin (EPO), or thrombopoietin (TPO) mimetics. There is a one month wash-out period for prior therapies including androgens.
  • Pregnant participants will not be entered on this study given that the effects of Metformin on the developing human fetus are unknown.
  • Breastfeeding mothers are not eligible because there is an unknown but potential risk for adverse events in nursing infants secondary to treatment of the mother with Metformin.
  • Patients must not have a history of allergic reactions attributed to compounds of similar chemical or biologic composition to Metformin.
  • Patients must not have uncontrolled intercurrent illness including, but not limited to, ongoing or active infection, symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness/social situations that would limit compliance with study requirements.
  • Patients must not have prior history of symptomatic hypoglycemia over the past year or hypoglycemia with glucose <50mg/dL on screening and baseline laboratory assessments.
  • Patients must not have type 1 diabetes mellitus.
  • Patients must abstain from alcohol as part of this study.
  • Patients must not have a diagnosis of myelodysplastic syndrome or leukemia, or other concurrent malignancy undergoing treatment.
  • Patients must not have vitamin B12 deficiency.
  • Patients must not have Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03398824

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United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children's Hospital
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Principal Investigator: Akiko Shimamura, MD, PhD Boston Children's Hospital
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Responsible Party: Elissa Furutani, MD, Instructor in Pediatrics, Boston Children's Hospital Identifier: NCT03398824    
Other Study ID Numbers: IRB-P00026540
First Posted: January 16, 2018    Key Record Dates
Last Update Posted: October 14, 2020
Last Verified: October 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: No
Keywords provided by Elissa Furutani, MD, Boston Children's Hospital:
Fanconi Anemia
Additional relevant MeSH terms:
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Fanconi Syndrome
Fanconi Anemia
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Hematologic Diseases
Congenital Bone Marrow Failure Syndromes
Bone Marrow Failure Disorders
Bone Marrow Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Hypoglycemic Agents
Physiological Effects of Drugs