HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy

• Status: Recruiting
• Trial end date: 2026-07-01
• Target enrollment: 0
• Participant gender: All

Summary

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Children's Hospital Medical Center, Cincinnati
• Collaborators: Fred Hutchinson Cancer Research Center; Memorial Sloan Kettering Cancer Center
• Treatments: Busulfan; Cyclophosphamide; Fludarabine; Fludarabine phosphate; Lenograstim; Sargramostim; Thymoglobulin; Vidarabine

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