Clinical trial · Interventional
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
NCT07408583CI-TRIAL-00114914not yet recruitingPhase 1 / Phase 2ClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (8)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Anemia, Hypoplastic, Congenital | — | UNRESOLVED | — |
| Bone Marrow Failure Disorders | — | UNRESOLVED | — |
| Cancer Predisposition Syndrome | — | UNRESOLVED | — |
| Congenital Bone Marrow Failure Syndromes | — | UNRESOLVED | — |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | — | UNRESOLVED | — |
| DNA Repair-Deficiency Disorders | — | UNRESOLVED | — |
| Fanconi Anemia | — | UNRESOLVED | — |
| Genetic Diseases, Inborn | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| IUHSCT for FA-affected fetuses | Biological | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- EXPERIMENTAL
- label
- Intervention - in utero hematopoietic stem cell transplantation
- description
- Single dose in utero hematopoietic stem cell transplantation (IUHSCT) in fetuses with Fanconi anemia during 19 - 28 weeks gestation. The cellular product is: Semi-allogeneic, Related, Maternal Bone Marrow-Derived, Miltenyi CliniMACS Plus enriched CD34+ hematopoietic stem cells administered in utero at a dose of 1 x 10\^7-10\^9 cells/kg fetal weight with equal to or less than 1% CD3+ T cells (equivalent to 10\^5-10\^7 T cells/kg fetal weight) in a final volume of 2-5ml suspended in 5% human serum albumin in Normosol buffer (Hospira, Inc.).
- interventionNames
- Biological: IUHSCT for FA-affected fetuses
Primary outcomes (4)
- measure
- Number of Maternal Participants with Treatment-Emergent Adverse Events (TEAEs) as Assessed by CTCAE v6.0.
- timeFrame
- From day of treatment to final maternal study visit (30 +/- 15 days after delivery).
- description
- Number of maternal participants with treatment-emergent adverse events (TEAEs) as assessed by CTCAE v6.0.
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * Male or female fetuses from 19\^0/7 - 28\^0/7 weeks gestational age at time of transplant. * Diagnosed with FA by either chorionic villus sampling (CVS), or amniocentesis, or cordocentesis with abnormal fetal chromosomal breakage studies and/or FANC gene mutations when combined with at least one of the following: 1) abnormal chromosomal breakage result consistent with an FA diagnosis, 2) family history of a 1st degree relative with confirmed FA, or 3) congenital anomalies consistent with the diagnosis of FA on fetal ultrasound. * Parents must consent to fetal autopsy in the event of a fetal demise. * Adequate bone marrow harvest from maternal participant is a condition for inclusion. Exclusion Criteria: * Fetal Participant Exclusion Criteria: Major anatomic or genetic anomalies that contributes a significant morbidity or mortality risk, and/or echocardiogram or ultrasound findings that indicate a high risk of fetal demise after fetal intervention. Fetuses with a normal chromosomal breakage study that determines they are likely FA negative. * Maternal Subject Exclusion Criteria: Maternal participants will be excluded if they have one or more morbidities that would preclude bone marrow harvest and fetal intervention including, but not limited to, morbid obesity with a body mass index greater than 40, significant maternal cardiac disease, mirror syndrome, clinically symptomatic maternal anemia, Preterm premature rupture of membranes (PPROM), Active Preterm labor (PTL), opioid use disorder, current use of anticoagulants.
References
Publications (3)
- BACKGROUNDSwartzrock L, Dib C, Denis M, Willner H, Ho K, Haslett E, Han J, Pan W, Byrne-Steele M, Brown B, Krampf MR, Girsen A, Blumenfeld YJ, El-Sayed YY, Roncarolo MG, MacKenzie TC, Czechowicz AD. In utero hematopoietic stem cell transplantation for Fanconi anemia. Blood Adv. 2024 Sep 10;8(17):4554-4558. doi: 10.1182/bloodadvances.2023011894. No abstract available. PMID 38991119
- BACKGROUNDDave A, Liu S, Riley JS, Bose S, Luks V, Berkowitz C, Menon P, Jung S, Li H, Kurre P, Peranteau WH. In utero hematopoietic cell transplantation leads to sustained engraftment in a mouse model of Fanconi anemia. Blood Adv. 2024 Feb 13;8(3):624-628. doi: 10.1182/bloodadvances.2023010354. No abstract available. PMID 37906519
- BACKGROUNDLum T, Lee C, MacKenzie T, Lianoglou B, Czechowicz A. Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community. Prenat Diagn. 2026 Feb 19. doi: 10.1002/pd.70077. Online ahead of print. PMID 41711672