NCT07408583

Prenatal Transplantation for Fetuses With Fanconi Anemia

A Phase I/II, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fanconi Anemia in Affected Fetuses

• Status: Not Yet Recruiting
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 12 (estimated)
• Sponsor: Agnieszka Czechowicz · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.

Detailed description

Fanconi Anemia (FA) is a genetic disorder known to shorten the lifespans of those diagnosed due to inherited chromosomal fragility that leads to hematopoietic failure (cytopenia, aplastic anemia, myelodysplasia, or leukemia), increased cancer risk, and other possible rare organ dysfunction such as congenital structural anomalies. Importantly, 80-90% of FA patients develop bone marrow failure (BMF) by 12 years of age. This is a phase I/II clinical trial to investigate the safety and efficacy of performing in utero hematopoietic stem cell transplantation (IUHSCT) for fetuses diagnosed with FA during pregnancy. The investigators aim to recruit twelve participants with a prenatal diagnosis of FA. Participants will undergo bone marrow harvest followed by an ultrasound guided in utero infusion of maternal stem cells. Transplanting maternal cells into the fetus takes advantage of the immature fetal immune system and existing maternal-fetal tolerance during pregnancy to enable stem transplantation without use of any conditioning or immunosuppression. The investigators intend to demonstrate that it is safe and effective to perform IUHSCT in fetuses diagnosed with FA. Additionally, the investigators want to demonstrate postnatal chimerism of maternal cells and correction of the DNA-repair deficiency in the blood and bone marrow. This procedure hopes to prevent the need for a future bone marrow transplant later in life, or if one remains necessary then it hopes that conditioning and immune suppression will not be required when using maternal stem cells due to persistant maternal tolerance.

Conditions

• Fanconi Anemia
• Anemia, Hypoplastic, Congenital
• Congenital Bone Marrow Failure Syndromes
• Bone Marrow Failure Disorders
• Genetic Diseases, Inborn
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
• DNA Repair-Deficiency Disorders
• Cancer Predisposition Syndrome

Interventions

Type	Name	Description
BIOLOGICAL	IUHSCT for FA-affected fetuses	Single-dose IUHSCT Administration of Semi-allogeneic, Related, Maternal Bone Marrow-Derived, Miltenyi CliniMACS Plus Enriched CD34+ Hematopoietic Stem Cells Administered in Utero via fetal injection during 19 - 28 weeks gestation.

Timeline

• Start date: 2026-07-01
• Primary completion: 2030-07-01
• Completion: 2032-07-01
• First posted: 2026-02-13
• Last updated: 2026-02-19

Locations

2 sites across 1 country: United States

Regulatory

• FDA-regulated drug study