Fanconi AnemiaPhase 1/2NCT07408583
Prenatal Transplantation for Fetuses With Fanconi Anemia
A Phase 1/2 study testing IUHSCT for FA-affected fetuses in people with Fanconi Anemia and Anemia, Hypoplastic, Congenital, run by Agnieszka Czechowicz at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fanconi Anemia, Anemia, Hypoplastic, Congenital, Congenital Bone Marrow Failure Syndromes
- What is being tested?
- IUHSCT for FA-affected fetuses
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 2 sitesUnited States
- Study dates
- Jan 2028to Jul 2033
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites
University of California, San Francisco
San Francisco, California, 94143
Stanford University
Stanford, California, 94305
About this study
Official title: 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
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.
Read the 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
- Being tested
- IUHSCT for FA-affected fetuses
- Keywords
- cell transplants, grafts, stem cells, bone marrow, Fanconi anemia, prenatal
- Medical subject headings
- 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
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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.). Receives: Biological: IUHSCT for FA-affected fetuses |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: From day of treatment to child's final study visit (24 months after birth).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Feb 2026
- Study startJan 2028 (estimated)
- Primary completionJul 2031 (estimated)
- Study completionJul 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Fanconi AnemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Agnieszka Czechowicz
- Sponsor type
- University, hospital or other
- Collaborators
- University of California, San Francisco
- Responsible party
- Sponsor-investigator, Agnieszka Czechowicz, Stanford University
- Investigators
- Yair Blumenfeld, MD, Principal investigator, Stanford UniversityTippi MacKenzie, MD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07408583
- Sponsor's protocol ID
- 84974
- Status last verified
- Jun 2026
- First submitted
- 6 Feb 2026
- Last updated
- 16 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 38991119Dave 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.
PubMed 37906519Lum 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.
PubMed 41711672
Study at a glance
From the registry record, last updated by the sponsor on 16 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT07408583
- Acronym / sponsor ID
- 84974
- 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
- Keywords
- cell transplants, grafts, stem cells, bone marrow, Fanconi anemia, prenatal
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Agnieszka CzechowiczUniversity, hospital or other
- Collaborators
- University of California, San Francisco
- Study start
- Jan 2028 (estimated)
- Primary completion
- Jul 2031 (estimated)
- Study completion
- Jul 2033 (estimated)
- First posted
- 13 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Intervention - in utero hematopoietic stem cell transplantation | Experimental | Biological: IUHSCT for FA-affected fetusesSingle 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.). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| IUHSCT for FA-affected fetusesSingle-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. | Biological | Intervention - in utero hematopoietic stem cell transplantation |
Primary outcome
Number of Maternal Participants with Treatment-Emergent Adverse Events (TEAEs) as Assessed by CTCAE v6.0.
Time frame: From day of treatment to final maternal study visit (30 +/- 15 days after delivery).
Number of maternal participants with treatment-emergent adverse events (TEAEs) as assessed by CTCAE v6.0.
Number of Maternal Participants with Serious Adverse Events (SAEs) as Assessed by CTCAE v6.0.
Time frame: 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 Fetal Participants with Treatment-Emergent Adverse Events (TEAEs) as Assessed by CTCAE v6.0.
Time frame: From day of treatment to child's final study visit (24 months after birth).
Number of fetal participants with treatment-emergent adverse events (TEAEs) as assessed by CTCAE v6.0.
Number of Fetal Participants with Serious Adverse Events (SAEs) as Assessed by CTCAE v6.0.
Time frame: 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jun 2026.
- Background: PubMed 38991119Swartzrock 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.
- Background: PubMed 37906519Dave 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.
- Background: PubMed 41711672Lum 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.
- Individual participant dataSharing planned: No
Related trials for Fanconi Anemia
RecruitingObservational study
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Fanconi Anemia, Inherited Bone Marrow Failure Syndrome
Not yet recruitingObservational study
Clinical Genetics Branch Eligibility Screening Survey
Melanoma, Li-Fraumeni Syndrome
RecruitingObservational study
Cancer in Inherited Bone Marrow Failure Syndromes
Diamond Blackfan Anemia, Dyskeratosis Congenita
RecruitingObservational study
Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I
RecruitingPhase 1
Safety and Tolerability of Metformin and Naproxen for Cancer Prevention in Fanconi Anemia
Fanconi Anemia, Head and Neck Cancer
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Yair Blumenfeld, MD principal investigator
Stanford University
Tippi MacKenzie, MD principal investigator
University of California, San Francisco
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing IUHSCT for FA-affected fetuses in people with Fanconi Anemia and Anemia, Hypoplastic, Congenital, run by Agnieszka Czechowicz at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 16 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Agnieszka Czechowicz, MD, PhD (650-497-2218, bmf@stanfordchildrens.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Maternal Participants with Treatment-Emergent Adverse Events (TEAEs) as Assessed by CTCAE v6.0. (time frame: From day of treatment to final maternal study visit (30 +/- 15 days after delivery).). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07408583, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jun 2026.