RecruitingPhase 1NCT06458712
Blood
Fanconi Anemia
Also known as FA, congenital aplastic anemia, Fanconi pancytopenia
Fanconi anemia is a rare inherited bone marrow failure syndrome caused by biallelic mutations in any of 23 FANC genes encoding proteins involved in the FA-BRCA DNA damage repair pathway, which is essential for resolving DNA interstrand cros
ORPHA:84 ↗Gene FANCAGene FANCCGene FANCD2 (multiple)Prevalence 1-5 per million; carrier frequency approximately 1 in 181Onset Childhood; hematologic manifestations typically appear in the first decadeAutosomal recessive (most subtypes); X-linked (FANCB)
23
studies recruiting now
as of 7 Sept 2026
151
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
4 Apr 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT05687149
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
RecruitingNCT00027274
Cancer in Inherited Bone Marrow Failure Syndromes
RecruitingNCT06744283
Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia
RecruitingPhase 1 / Phase 2NCT06910813
DFT383 in Pediatric Participants With Nephropathic Cystinosis
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 23 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Fanconi Anemia
Fanconi anemia is a rare inherited bone marrow failure syndrome caused by biallelic mutations in any of 23 FANC genes encoding proteins involved in the FA-BRCA DNA damage repair pathway, which is essential for resolving DNA interstrand crosslinks and replication fork stress. The condition is characterized by progressive pancytopenia, congenital physical anomalies, and a markedly elevated risk of myelodysplastic syndrome, acute myeloid leukemia, and solid tumors particularly squamous cell carcinomas of the head and neck and gynecologic tract. The diagnosis is confirmed by chromosomal breakage analysis using diepoxybutane (DEB) or mitomycin C, which reveals characteristic hypersensitivity of FA cells.
Common clinical features
Progressive pancytopenia from bone marrow failureRadial ray anomalies (absent or hypoplastic thumbs, radial aplasia)Short stature and low birth weightCafe-au-lait spots and skin hyperpigmentationRenal and urogenital structural anomaliesMicrocephaly and microphthalmiaElevated cancer risk including AML, MDS, and squamous cell carcinomaEndocrine abnormalities including growth hormone deficiency and hypothyroidism
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
12 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Metformin
Phase 2Mozafancogene Autotemcel
Phase 2Metformin Hydrochloride (Bolamyn sr)
Phase 2Eltrombopag (Revolade)
Phase 2Plerixafor (Mozobil)
Phase 2Filgrastim (Accofil)
Phase 1/2Cyclophosphamide (Cyclophosphamide)
Phase 1/2Danazol (Danazol)
+ 4 more in development
Before you apply
Things trial teams commonly ask about for Fanconi Anemia. Not eligibility rules; those are set by each study.
- Diagnosis must be confirmed by chromosomal breakage testing (DEB or MMC assay) and complementation group or gene mutation identified, as FA subtype significantly affects prognosis and trial eligibility.
- Hematopoietic stem cell transplantation eligibility and conditioning regimen tolerability are critical considerations; FA patients require reduced-intensity conditioning due to DNA repair deficiency.
- Cancer surveillance history and any prior malignancy diagnosis must be disclosed; many trials exclude patients with active or recent malignancy, while others are specifically designed for FA patients with MDS or AML.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).