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Disease

Fanconi Anemia

Late-stage therapeutic developmentEmerging research
MeSHFanconi Anemia
1
Publications
20
Clinical trials
2024
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 4 clinical trials expected to report results, the earliest in Q4 2026.
Upcoming Milestones
Clinical Milestones7View
Results posted 1
Results expected 4
Recently completed 1
Other updates 1
Activity timeline7

Clinical trials

13 sponsors · 0 new · 1 completed in the last 12 months (net -1)

The current development programme across all trial phases.

Clinical programme
20
All trials
6
Active
1
Late-stage
6
Completed
Recruiting

MT2017-17:T Cell Receptor Alpha/Beta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) Disorders

Phase 2 · Recruiting · Masonic Cancer Center, University of Minnesota

A 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

Phase 2 · Recruiting · Children's Hospital Medical Center, Cincinnati

TCRαβ+ 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

Phase 1/2 · Recruiting · Porteus, Matthew, MD

Phase 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.

Phase 1/2 · Recruiting · Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Recently completed

Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia

Phase 2 · Completed · Children's Hospital Medical Center, Cincinnati

An Open-label, Phase II Study to Assess the Efficacy and Safety of Eltrombopag for the Treatment of Children and Adolescents With Fanconi Anemia.

Phase 2 · Completed · Julian Sevilla

Total Body Irradiation Dose De-escalation Study in Patients With Fanconi Anemia Undergoing Alternate Donor Hematopoietic Cell Transplantation

Phase 2/3 · Completed · Masonic Cancer Center, University of Minnesota

Clinical Trial Phase I / II to Evaluate the Safety and Efficacy of the Infusion of Autologous CD34 + Cells Transduced With a Lentiviral Vector Carrying the Gene FANCA in Patients With FA Subtype A (FANCOLEN-1)

Phase 1/2 · Completed · Hospital Infantil Universitario Niño Jesús, Madrid, Spain

Nonmyeloablative Hematopoietic Cell Transplantation for Patients With Fanconi Anemia Using Alternative Marrow Donors: A Phase II Dose-Finding Study

Phase 2 · Completed · Fred Hutchinson Cancer Center

Low-Dose Total Body Irradiation and Fludarabine Followed By Unrelated Donor Stem Cell Transplantation for Patients With Fanconi Anemia - A Multicenter Trial

Phase 1 · Completed · Fred Hutchinson Cancer Center

Research activity

1 papers

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

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

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)

Identifiers
MeSHFanconi Anemia
References & data sources
  • 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.