Fanconi Anemia (FA) Clinical Trials and Treatments

Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by severe cellular hypersensitivity to DNA crosslinking agents and progressive pancytopenia. Caused by mutations in genes encoding proteins involved in DNA repair (particularly homologous recombination repair and DNA interstrand crosslink repair), FA comprises 22+ complementation groups (FA-A through FA-W) with distinct genetic and clinical features. The hallmark diagnostic feature is chromosomal breakage induced by diepoxybutane (DEB) or mitomycin C (MMC) testing.

The most common symptoms of Fanconi Anemia include Anemia, thrombocytopenia, neutropenia by age 10, Progressive bone marrow failure, Physical abnormalities (short stature, thumb/radial defects), Increased bleeding and infections, Developmental delay in some forms, among others. Fanconi Anemia affects approximately 1 in 100,000 to 350,000 people; higher in certain populations. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Fanconi Anemia from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Hematopoietic stem cell transplantation (HSCT) offers the only curative treatment for bone marrow failure, with better outcomes in younger patients and with matched related donors achieving ~70-80% long-term disease-free survival. Unrelated donor or cord blood transplantation increasingly successful but with higher morbidity.

As of October 14, 2026, no current FDA drug label names Fanconi Anemia as a condition the drug treats.

Fanconi Anemia is caused by variants in any of many genes, most often FANCA, FANCC, FANCG, FANCD2, BRCA2 and FANCB. More than 20 genes are known; FANCA, FANCC and FANCG together account for 80 to 90% of cases.

It follows autosomal recessive (FANCB is X-linked; RAD51 is dominant) inheritance. The condition affects approximately 1 in 100,000 to 350,000 people; higher in certain populations. A multigene panel identifies the cause in most families.

Yes. Fanconi Anemia can be caused by variants in many different genes (FANCA, FANCC, FANCG, FANCD2, BRCA2 and FANCB are among the most common), so testing is usually a multigene panel or exome sequencing rather than one gene at a time. More than 20 genes are known; FANCA, FANCC and FANCG together account for 80 to 90% of cases.

It follows autosomal recessive (FANCB is X-linked; RAD51 is dominant) inheritance.

Knowing the exact gene matters: it decides which trials a patient qualifies for and which relatives should be tested. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Fanconi Anemia clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Fanconi Anemia clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.