Transplant for Patients with Fanconi Anemia Using Adjusted Chemotherapy

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 Interventional Children's Hospital Medical Center, Cincinnati · NCT02143830

This study is testing a new way to use lower doses of chemotherapy before a stem cell transplant to see if it can safely help people with Fanconi anemia and serious blood disorders.

Quick facts

PhasePhase 2
Study typeInterventional
Enrollment70 (estimated)
Ages3 Months and up
SexAll
SponsorChildren's Hospital Medical Center, Cincinnati Academic / other
Drugs / interventionscyclophosphamide, fludarabine, chemotherapy
Locations3 sites (New York, New York and 2 other locations)
Trial IDNCT02143830 on ClinicalTrials.gov

What this trial studies

This clinical trial aims to evaluate the safety and efficacy of a risk-adjusted chemotherapy regimen combined with a stem cell transplant for patients with Fanconi anemia and severe hematologic conditions. Participants will receive a preparative regimen that includes lower doses of busulfan, fludarabine, anti-thymocyte globulin, and cyclophosphamide, followed by a transplant using either mismatched related or matched unrelated donors. The study is designed to minimize transplant-related side effects while effectively treating severe marrow failure, myelodysplastic syndrome, or acute myelogenous leukemia.

Who should consider this trial

Good fit: Ideal candidates include patients diagnosed with Fanconi anemia who also have severe marrow failure, myelodysplastic syndrome, or acute myelogenous leukemia.

Not a fit: Patients without a diagnosis of Fanconi anemia or those who do not meet the specific hematologic criteria may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to safer transplant procedures with fewer side effects for patients with Fanconi anemia.

How similar studies have performed: Other studies have shown promise with similar chemotherapy approaches in stem cell transplants, suggesting potential for success in this trial.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Patients must have a diagnosis of Fanconi anemia
* Patients must have one of the following hematologic diagnoses:

  1. Severe Aplastic Anemia (SAA), with bone marrow cellularity of \<25% OR Severe Isolated Single Lineage Cytopenia and at least one of the following features:

     1. Platelet count \<20 x 109/L or platelet transfusion dependence\*
     2. ANC \<1000 x 109/L
     3. Hgb \<8 gm/dl or red cell transfusion dependence\*
  2. Myelodysplastic Syndrome (MDS) (based on WHO or IPSS Classification
  3. Acute Myelogenous Leukemia (untreated, in remission or with refractory or relapsed disease)
* Donors will be either human leukocyte antigen (HLA) compatible unrelated or HLA-genotypically matched related donors (no fully matched sibling donor).
* Patients and donors may be of either gender or any ethnic background.
* Patients must have a Karnofsky adult, or Lansky pediatric performance scale status \> 70%.
* Patients must have adequate physical function measured by:

  1. Cardiac: asymptomatic or if symptomatic then 1) left ventricular ejection fraction (LVEF) at rest must be \> 50% and must improve with exercise or 2) Shortening Fraction \> 29%
  2. Hepatic: \< 5 x upper limit of normal (ULN) alanine transaminase (ALT) and \< 2.0 mg/dl total serum bilirubin.
  3. Renal: serum creatinine \<1.5 mg/dl or if serum creatinine is outside the normal range, then CrCl \> 50 ml/min/1.73 m2
  4. Pulmonary: asymptomatic or if symptomatic, DLCO \> 50% of predicted
* Each patient must be willing to participate as a research subject and must sign an informed consent form.
* Female patients and donors must not be pregnant or breastfeeding at the time of signing consent. Women must be willing to undergo a pregnancy test prior to transplant and avoid becoming pregnant while on study.

Exclusion Criteria:

* Active CNS leukemia
* Female patients who are pregnant (positive serum or urine HCG) or breast-feeding.
* Active uncontrolled viral, bacterial or fungal infection
* Patient seropositive for HIV-I/II; HTLV -I/II

Where this trial is running

New York, New York and 2 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Fanconi AnemiaSevere Marrow FailureMyelodysplastic SyndromeAcute Myelogenous Leukemiamarrow aplasiacytopeniamyelodysplasiaAML
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.