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Fanconi AnemiaPhase 1/2NCT04784052

Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing Briquilimab

A Phase 1/2 study testing JSP191, CliniMACS Prodigy System and Depleted Stem Cell Transplant in people with Fanconi Anemia, run by Porteus, Matthew, MD at 1 site in United States.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

The objective of this clinical trial is to develop a cell therapy for Fanconi Anemia which enables enhanced donor hematopoietic and immune reconstitution with decreased toxicity by transplanting depleted stem cells from a donor with and without using an experimental antibody treatment called JSP-191 as a part of… Read more about this study

Who is it for?
Ages 2 years and older
Conditions the study is for
Fanconi Anemia
What is being tested?
JSP191, CliniMACS Prodigy System and Depleted Stem Cell Transplant
Could I receive a placebo?
No, everyone receives an active treatment
How many people
18 participants
Where
1 siteUnited States
Study dates
7 Dec 2021to Dec 2028
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 2 years and older
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Who may be able to join

  • All patients must have:
  • Fanconi Anemia diagnosis as demonstrated by abnormal chromosome breakage studies with increased sensitivity to mitomycin-C (MMC) or diepoxybutane (DEB) and at least one mutation in a known Fanconi-associated gene
  • Bone marrow failure (defined by reduction in at least one cell line on two separate occasions at least one month apart (e.g., platelet count of <100,000 per cubic millimeter, hemoglobin <9 gm/dl and/or absolute neutrophil count (ANC) of <1000/mm)
  • Age of ≥2 years
  • Consenting ≥5/10 HLA-matched related or unrelated donor available for apheresis
  • Organ function defined as:
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  • Serum Creatinine <2.0 mg/dL and corrected creatinine clearance/cystatin cL >60 mL/min/1.73m^2 without dialysis
  • Forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and diffusing capacity of the lung for carbon monoxide (DLCO) corrected for hemoglobin and volume, >50% predicted by pulmonary function tests (PFTs)
  • For patients unable to cooperate for PFTs, criteria are no evidence of dyspnea at rest, no exercise intolerance, and no requirement for supplemental oxygen with spO2 >93%
  • Shortening fraction of ≥29% or ejection fraction of ≥45% by echocardiogram
  • Serum total bilirubin of <4 x ULN
  • Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) < 5 x ULN
  • Prothrombin time international normalized ratio (PT INR) and partial thromboplastin time (PTT) <1.5 x ULN
  • Life expectancy of at least 2 years
  • Patients of childbearing potential must be willing to use an effective contraceptive method for the duration of the peri-transplant conditioning through hematopoietic recovery
  • Patients and/or parents or legal guardians must be able to provide written informed consent and authorize use and disclosure of personal health information in accordance with Health Insurance Portability and Accountability Act

Who cannot join

  • Patients with available and consenting 10/10 HLA-identical sibling donor for apheresis
  • Patients with any acute or uncontrolled infections at the time of enrollment, including bacterial, fungal or viral
  • Patients who are seropositive for HIV-I/II or HTLV-I/II.
  • Patients receiving any other investigational agents or other biological, chemotherapy, or radiation therapy within 14 days of enrollment
  • Patients with any active malignancies, myelodysplastic syndrome or other concerns for high-risk bone marrow disease
  • Patients who received androgens in last 3 months
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  • Pregnant or lactating women
  • Women who are nursing and do not wish to discontinue breastfeeding
  • Lansky/Karnofsky performance score <50%.
  • Any other medical condition or history that, in the opinion of the Principal Investigator, could pose a significant safety risk to the participant or jeopardize the integrity of the study
  • Patients who, in the opinion of the Principal Investigator, may not be able to comply with the safety monitoring requirements of the study

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

United States1 site, 1 recruiting

  • Stanford University

    Stanford, California, 94305

    Rajni Agarwal, MD, 650-725-9250, scgt_clinical_trials_office@lists.stanford.edu

    Recruiting

Other trials in United States

About this study

Official title: TCRαβ+ T-cell/CD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 (Briquilimab) to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi Anemia

The objective of this clinical trial is to develop a cell therapy for Fanconi Anemia which enables enhanced donor hematopoietic and immune reconstitution with decreased toxicity by transplanting depleted stem cells from a donor with and without using an experimental antibody treatment called JSP-191 as a part of conditioning. This experimental treatment will hopefully cause fewer side effects than chemotherapy (the current standard of care method).

Participants will be administered the conditioning regimen, are assessed until they receive the depleted stem cell infusion, and will be followed for up to 2 years after the cell infusion.

Conditions
Fanconi Anemia
Being tested
JSP191, CliniMACS Prodigy System, Depleted Stem Cell Transplant, Rabbit Anti-Thymoglobulin (rATG), Cyclophosphamide
Keywords
Cell Transplants, Grafts, Stem Cells
Medical subject headings
Fanconi Anemia

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • JSP191Drug

    Participants will receive a single IV dose at start of conditioning

  • CliniMACS Prodigy SystemDevice

    The device used to remove the αβ+T cells from donor stem cell transplant before being given to the recipient

  • Depleted Stem Cell TransplantBiological

    TCRαβ+ T-cell/CD19+ B-cell depleted hematopoietic cells will be administered by IV after completion of conditioning regimen.

  • Rabbit Anti-Thymoglobulin (rATG)Biological

    3 consecutive daily doses of rATG will be given by IV during conditioning

  • CyclophosphamideDrug

    Also called Cytoxan

    4 consecutive daily doses of cyclophosphamid will be given by IV during conditioning

  • FludarabineDrug

    4 consecutive daily doses of fludarabine will be given by IV during conditioning

  • RituximabDrug

    1 dose of rituximab will be given at the end of conditioning

Study groups in NCT04784052
Study groupRoleWhat they receive
Depleted Stem Cell Transplant with JSP-191 ConditioningExperimentalParticipants will receive an infusion of donor stem cells which have been depleted of αβ+T cells using the CliniMACS System device. Before the stem cell transplant, they will receive a reduced-intensity preparative regimen containing JSP191 in combination with rATG, cyclophosphamide, fludarabine and rituximab.
Receives: Drug: JSP191; Device: CliniMACS Prodigy System; Biological: Depleted Stem Cell Transplant; Biological: Rabbit Anti-Thymoglobulin (rATG); Drug: Cyclophosphamide; Drug: Fludarabine; Drug: Rituximab
Depleted Stem Cell Transplant without JSP-191 ConditioningExperimentalParticipants will receive an infusion of donor stem cells which have been depleted of αβ+T cells using the CliniMACS System device. Before the stem cell transplant, they will receive a reduced-intensity preparative regimen containing rATG, cyclophosphamide, fludarabine and rituximab.
Receives: Device: CliniMACS Prodigy System; Biological: Depleted Stem Cell Transplant; Biological: Rabbit Anti-Thymoglobulin (rATG); Drug: Cyclophosphamide; Drug: Fludarabine; Drug: Rituximab

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Number of participants without grade 3 and 4 treatment-emergent adverse events (TEAEs) (infusion related reactions).

    Recorded and graded according to the Common Terminology Criteria for Adverse Events (CTCAE) Version 5.0

    Measured: From start of conditioning regimen administration until cell infusion (up to 30 days)

  2. Number of participants without grade 3 and 4 treatment-emergent adverse events (TEAEs) (infusion related reactions) following infusion of TCRαβ+ T-cell/CD19+ B-cell depleted hematopoietic graft transplantation

    Measured: Up to 2 years post-cell infusion

  3. Number of participants able to achieve donor engraftment

    Participants have achieved engraftment when absolute Neutrophil Count (ANC) is above 500/mm^3 for three consecutive laboratory values obtained on different days post cell transplantation with >1% CD15 donor chimerism

    Measured: Assessed at Day +42 post-cell infusion

  4. Number of participants who are able to have donor engraftment persist at the same rate or better compared to alternative hematopoietic cell transplant regimens for this patient population

    Measured: Assessed at Day +100 post-cell infusion

Secondary outcomes (11)

  1. Serum concentration of JSP191

    Assessed as serum concentrations in the peripheral blood from administration until time of cell infusion

    Measured: Prior to start of conditioning regimen, and 5 minutes, 4 hours, +2, +3, +4, +6, +8, +10 days after start of conditioning regimen, and day of cell infusion

  2. Serum concentration of rATG

    Assessed as serum concentrations in the peripheral blood from administration until time of cell infusion

    Measured: Prior to start of rATG infusion; 15 minutes after first, second, and third rATG infusion; day of cell infusion; and week +1, week +2 and week +12 post cell infusion

  3. Serum concentration of fludarabine

    Assessed as serum concentrations in the peripheral blood from administration until time of cell infusion

    Measured: Prior to start of fludarabine infusion, and 15 minutes, 1 hour, 3 hours, and 6 hours after the fludarabine infusion

  4. Participants who do not develop mucositis

    Mucositis incidence will be scored using the CTC criteria

    Measured: Start of conditioning regimen until +12 weeks post-cell infusion (up to 15 weeks)

  5. Participants who do not develop veno-occlusive disease (VOD)

    VOD incidence will be scored using the Modified Seattle criteria

    Measured: Start of conditioning regimen until +12 weeks post-cell infusion (up to 15 weeks)

  6. Number of participants who achieve hematopoietic recovery

    Hematopoietic recovery defined by hemoglobin >8g/dL and platelets >20k/dL without transfusion support achieved on 7 days post-graft transplantation documented on hematologic monitoring

    Measured: Up to 107 weeks (after start of conditioning regimen through Week +104 post-cell infusion)

  7. Number of participants who achieve donor engraftment

    Engraftment measured as peripheral blood (total, CD15+, CD3+, CD19+, CD56+, and CD34+) and bone marrow (total and CD34+) chimerism by STR analysis

    Measured: Weeks +1 through +104 post-cell infusion

  8. Number of participants who achieve immunologic recovery

    Immunologic recovery defined as >200/uL CD3+ T-cells and as assessed by percent and absolute numbers of T (CD3), B (CD19) and NK (CD56) cells by CBC differential studies and flow cytometry for lymphocyte lineages

    Measured: Weeks +1 through +104 post-cell infusion

  9. Number of participants who develop Grade I-IV acute graft-vs-host disease (GvHD)

    Measured: Day +100 post-cell infusion

  10. Number of participants who develop chronic graft-vs-host disease (GvHD)

    Measured: Day +100 through Week +104 post-cell infusion

  11. Number of participants who achieve disease-free survival

    Disease-free defined by improved DEB-induced chromosomal breakage analysis in peripheral blood lymphocyte cultures

    Measured: Up to 104 weeks (from time of cell infusion through Week +104)

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted5 Mar 2021
  2. Study start7 Dec 2021
  3. Primary completionDec 2027 (estimated)
  4. Study completionDec 2028 (estimated)

Resources

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
Non-randomised
Intervention model
Sequential
Masking
None (open label)
Enrolment
18 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04784052
Sponsor's protocol ID
IRB-60108
Status last verified
Jan 2026
First submitted
2 Mar 2021
Last updated
27 Jan 2026
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
Individual data sharing
No

Publications

  • Agarwal R, Bertaina A, Soco C, Long-Boyle JR, Saini G, Kunte N, Hiroshima L, Chan YY, Willner H, Krampf MR, Nofal R, Barbarito G, Sen S, Van Hentenryck M, Walck E, Scheck A, Perriman RJ, Bouge A, Istomina E, Din HN, Klinger EF, Cheng JC, Wlodarski MW, Boelens JJ, Shizuru JA, Pang WW, Weinberg K, Parkman R, Roncarolo MG, Porteus M, Czechowicz A. Irradiation- and busulfan-free stem cell transplantation in Fanconi anemia using an anti-CD117 antibody: a phase 1b trial. Nat Med. 2025 Sep;31(9):3183-3190. doi: 10.1038/s41591-025-03817-1. Epub 2025 Jul 22.

    PubMed 40696207

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing JSP191, CliniMACS Prodigy System and Depleted Stem Cell Transplant in people with Fanconi Anemia, run by Porteus, Matthew, MD at 1 site 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 16 inclusion and 11 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: looking for participants now, as of the sponsor's last update on 27 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site 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?

Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Number of participants without grade 3 and 4 treatment-emergent adverse events (TEAEs) (infusion related reactions). (time frame: From start of conditioning regimen administration until cell infusion (up to 30 days)). 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 NCT04784052, which also lists 1 linked publication.

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 27 Jan 2026.

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