NCT04784052 · Porteus, Matthew, MD
Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing Briquilimab
What this study is about
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.
View original scientific description
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 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:
- 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
Exclusion criteria
- 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
- 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
Where
- Stanford, California
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jan 27, 2026 · Source of record for eligibility and locations