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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Fanconi anemia future or investigational therapies

Introduction

Therapies under development

● Gene therapy – Gene therapy has the potential to improve bone marrow function in individuals with FA since the origin of bone marrow failure is deficiency of an FA gene function. Gene-corrected CD34+ stem cells from FA patients have been engrafted in immune-deficient mice, but successful clinical applications of gene therapy for FA have not yet been demonstrated.[1]

Major inclusion and exclusion criteria for gene therapy in patients with biallelic FANCA germ-line mutations as proposed by International Fanconi Anemia Gene Therapy Working Group.[2]

Inclusion Criteria 1. FA demonstrated by a positive test for increased sensitivity to chromosomal breakage with MMC/DEB and determination of FA complementation group A by somatic cell hybrids, molecular characterization, western blot analysis, direct FANCA sequencing, or acquisition of mitomycin C resistance after in vitro transduction with a vector bearing the FANCA cDNA.
2. Bone Marrow analysis demonstrating normal karyotype.
Exclusion Criteria 1. Uncontrolled infection (viral, bacterial, or fungal).
2. Patients with an HLA identical sibling donor.

● Metformin – In a mouse model of FA (FANCD2 gene knockout), metformin produced modest increases in white blood cell (WBC) counts, hemoglobin levels, and platelet counts.[3] There was also reduced p53-dependent tumor formation and a suggestion of decreased susceptibility to DNA damage. Metformin has not been evaluated in patients with FA.

References

  1. ↑ Río P, Navarro S, Guenechea G, Sánchez-Domínguez R, Lamana ML, Yañez R; et al. (2017). “Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34+ cells from Fanconi anemia patients”. Blood. 130 (13): 1535–1542. doi:10.1182/blood-2017-03-774174. PMID 28801449.
  2. ↑ Arefolov VA, Raevskiĭ KS (1973). “[Electron microscopic study of the effect of triftazin on reticular formation neurons in the rat medulla oblongata and mesencephalon]”. Farmakol Toksikol. 36 (1): 5–8. PMID 4685155.
  3. ↑ Zhang QS, Tang W, Deater M, Phan N, Marcogliese AN, Li H; et al. (2016). “Metformin improves defective hematopoiesis and delays tumor formation in Fanconi anemia mice”. Blood. 128 (24): 2774–2784. doi:10.1182/blood-2015-11-683490. PMC 5159699. PMID 27756748.