HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy

Recruiting now · Phase 2

Conditions studied: Fanconi Anemia, Severe Marrow Failure, Myelodysplastic Syndrome (MDS), Acute Myelogenous Leukemia (AML)

In brief

The purpose of this study is to determine whether the use of lower doses of busulfan and the elimination of cyclosporine will further reduce transplant-related side effects for patients with Fanconi Anemia (FA). Patients will undergo a transplant utilizing mis-matched related or matched unrelated donors following a preparative regimen of busulfan, fludarabine, anti-thymocyte globulin and cyclophosphamide.

Key facts

Study ID: NCT02143830
Run by: Children's Hospital Medical Center, Cincinnati
People needed: 70
Starts: 2014-04-01
Expected to finish: 2028-12-01
Last updated by the study team: 2025-11-12

Who can join

Age: 0 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Patients must have a diagnosis of Fanconi anemia
Patients must have one of the following hematologic diagnoses:
Severe Aplastic Anemia (SAA), with bone marrow cellularity of <25% OR Severe Isolated Single Lineage Cytopenia and at least one of the following features:
Platelet count <20 x 109/L or platelet transfusion dependence*
ANC <1000 x 109/L
Hgb <8 gm/dl or red cell transfusion dependence*
Myelodysplastic Syndrome (MDS) (based on WHO or IPSS Classification
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:
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%
Hepatic: < 5 x upper limit of normal (ULN) alanine transaminase (ALT) and < 2.0 mg/dl total serum bilirubin.
Renal: serum creatinine <1.5 mg/dl or if serum creatinine is outside the normal range, then CrCl > 50 ml/min/1.73 m2
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.

You may not qualify if…

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 it is running

Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (enrolling)
Fred Hutchinson Cancer Research Center — Seattle, Washington, United States (enrolling)
Memorial Sloan Kettering Cancer Center — New York, New York, United States

Full record on ClinicalTrials.gov

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