NCT07408583

Brief 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.

Trial Health

63
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
12

participants targeted

Target at below P25 for phase_1

Timeline
73mo left

Started Jul 2026

Longer than P75 for phase_1

Geographic Reach
1 country

2 active sites

Status
not yet recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 6, 2026

Completed
7 days until next milestone

First Posted

Study publicly available on registry

February 13, 2026

Completed
5 months until next milestone

Study Start

First participant enrolled

July 1, 2026

Expected
4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2030

2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2032

Last Updated

February 19, 2026

Status Verified

February 1, 2026

Enrollment Period

4 years

First QC Date

February 6, 2026

Last Update Submit

February 16, 2026

Conditions

Fanconi AnemiaAnemia, Hypoplastic, CongenitalCongenital Bone Marrow Failure SyndromesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesBone Marrow Failure DisordersDNA Repair-Deficiency DisordersCancer Predisposition Syndrome

Keywords

cell transplantsgraftsstem cellsbone marrowFanconi anemiaprenatal

Outcome Measures

Primary Outcomes (4)

  • Number of Maternal Participants with Treatment-Emergent Adverse Events (TEAEs) as Assessed by CTCAE v6.0.

    Number of maternal participants with treatment-emergent adverse events (TEAEs) as assessed by CTCAE v6.0.

    From day of treatment to final maternal study visit (30 +/- 15 days after delivery).

  • Number of Maternal Participants with Serious Adverse Events (SAEs) as Assessed by CTCAE v6.0.

    Number of maternal participants with serious adverse events (SAEs) as assessed by CTCAE v6.0.

    From day of treatment to final maternal study visit (30 +/- 15 days after delivery).

  • Number of Fetal Participants with Treatment-Emergent Adverse Events (TEAEs) as Assessed by CTCAE v6.0.

    Number of fetal participants with treatment-emergent adverse events (TEAEs) as assessed by CTCAE v6.0.

    From day of treatment to child's final study visit (24 months after birth).

  • Number of Fetal Participants with Serious Adverse Events (SAEs) as Assessed by CTCAE v6.0.

    Number of fetal participants with serious adverse events (SAEs) as assessed by CTCAE v6.0.

    From day of treatment to child's final study visit (24 months after birth).

Study Arms (1)

Intervention - in utero hematopoietic stem cell transplantation

EXPERIMENTAL

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.).

Biological: IUHSCT for FA-affected fetuses

Interventions

IUHSCT for FA-affected fetusesBIOLOGICAL

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.

Intervention - in utero hematopoietic stem cell transplantation

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

University of California, San Francisco

San Francisco, California, 94143, United States

Location

Stanford University

Stanford, California, 94305, United States

Location

Related Publications (3)

  • Swartzrock 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: 38991119BACKGROUND

  • Dave 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: 37906519BACKGROUND

  • Lum, T., Lee, C., MacKenzie, T., Lianoglou, B., & Czechowicz, A. (2025). Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community. medRxiv, 2025-08. https://doi.org/10.1101/2025.08.15.25333795

    BACKGROUND

MeSH Terms

Conditions

Fanconi AnemiaAnemia, Hypoplastic, CongenitalCongenital Bone Marrow Failure SyndromesBone Marrow Failure DisordersGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDNA Repair-Deficiency Disorders

Condition Hierarchy (Ancestors)

Anemia, AplasticAnemiaHematologic DiseasesHemic and Lymphatic DiseasesBone Marrow DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesInfant, Newborn, Diseases

Study Officials

  • Yair Blumenfeld, MD

    Stanford University

    PRINCIPAL INVESTIGATOR

  • Tippi MacKenzie, MD

    University of California, San Francisco

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Agnieszka Czechowicz, MD, PhD

CONTACT

650-497-2218bmf@stanfordchildrens.org

Yair Blumenfeld, MD

CONTACT

650-725-5720mfmresearch@stanford.edu

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Assistant Professor of Pediatrics

Study Record Dates

First Submitted

February 6, 2026

First Posted

February 13, 2026

Study Start (Estimated)

July 1, 2026

Primary Completion (Estimated)

July 1, 2030

Study Completion (Estimated)

July 1, 2032

Last Updated

February 19, 2026

Record last verified: 2026-02

Data Sharing

IPD Sharing
Will not share

Locations

US(2)