Fanconi Anemia
Recent clinical, regulatory, research and industry developments relating to this disease.
Eltrombopag for Patients With Fanconi Anemia
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 4 clinical trials expected to report results, the earliest in Q4 2026.
- Q4 2026A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine
- Q1 2027MT2017-17:T Cell Receptor Alpha/Beta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) Disorders
- Q4 2027TCRαβ+ T-cell/CD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 (Briquilimab) to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi Anemia
- Q4 2028Phase Ib/II Study to Investigate the Safety and Efficacy of Afatinib When Administered as Therapy in Fanconi Anemia Patients With Unresectable and / or Metastatic Locoregionally Advanced Squamous Cell Carcinoma of the Oral Cavity, Oropharynx or Hypopharynx or Larynx.
Clinical MilestonesViewHide
- 2026-09-16Eltrombopag for Patients With Fanconi AnemiaResults posted
- 2026-04-20Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi AnemiaResults posted
- 2026-05-27Phase Ib/II Study to Investigate the Safety and Efficacy of Afatinib When Administered as Therapy in Fanconi Anemia Patients With Unresectable and / or Metastatic Locoregionally Advanced Squamous Cell Carcinoma of the Oral Cavity, Oropharynx or Hypopharynx or Larynx.Results expected Q4 2028
- 2026-01-30MT2017-17:T Cell Receptor Alpha/Beta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) DisordersResults expected Q1 2027
- 2026-01-27TCRαβ+ T-cell/CD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 (Briquilimab) to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi AnemiaResults expected Q4 2027
- 2025-11-12A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and FludarabineResults expected Q4 2026
- 2026-09-16ClinicalEltrombopag for Patients With Fanconi AnemiaResults posted
- 2026-05-27ClinicalPhase Ib/II Study to Investigate the Safety and Efficacy of Afatinib When Administered as Therapy in Fanconi Anemia Patients With Unresectable and / or Metastatic Locoregionally Advanced Squamous Cell Carcinoma of the Oral Cavity, Oropharynx or Hypopharynx or Larynx.Results expected Q4 2028
- 2026-05-05ClinicalA Phase 2 Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype APrimary completion
- 2026-04-20ClinicalQuercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi AnemiaResults posted
- 2026-01-30ClinicalMT2017-17:T Cell Receptor Alpha/Beta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) DisordersResults expected Q1 2027
- 2026-01-27ClinicalTCRαβ+ T-cell/CD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 (Briquilimab) to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi AnemiaResults expected Q4 2027
- 2025-12-01ClinicalA Multinational, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Activity of FP 045 in Patients With Fanconi Anemia (FusuciA Study)Withdrawn
- 2025-11-12ClinicalA Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and FludarabineResults expected Q4 2026
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes3
- Brain1
- Fanconi Anemia1
- Neuroinflammatory Diseases1
Leading journals1
- Blood advances1
Leading researchers7
- Bartlett AL1
- Davies SM1
- Fuller C1
- Jones B1
- Sabulski A1
- Wagner JE1
- Wells S1
Affiliations (unnormalised)2
- Cincinnati Children's Hospital Medical Center1
- Institute for Cell1
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.