NCT07476183 · Apriligen, Inc.
Assessing the Safety, Tolerability, and Efficacy of APR-2020 in Pediatric and Adolescent Subjects With RPS19 Deficient Diamond-Blackfan Anemia
What this study is about
Brief summary The goal of this clinical trial is to learn if APR-2020 is safe and can help treat Diamond-Blackfan Anemia (DBA) in adolescents and children.
View original scientific description
Brief summary The goal of this clinical trial is to learn if APR-2020 is safe and can help treat Diamond-Blackfan Anemia (DBA) in adolescents and children. The main questions it aims to answer are: * Is APR-2020 safe and well tolerated? * Does APR-2020 modify or correct an underlying genetic condition which causes DBA? * Does APR-2020 reduce or eliminate the need for blood transfusions and/or restore certain blood counts affected by DBA? Participants will: * Take the drug one time as an infusion. * Undergo two rounds of a cellular harvest procedure in which their own cells will be used in the manufacturing of their own participant-specific product. * Initially return to the clinic for two years of follow up at increasingly sparse intervals.
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
- Confirmed diagnosis of RPS19-deficient DBA.
- Signed informed consent by the subject or legally authorized representative.
- Bone marrow analysis demonstrating normal cytogenetics except for RPS19-deficient DBA.
- Subjects are between 2 and 18 years of age, inclusive.
- Eligible for allogeneic marrow or stem cell transplant for DBA (non-critical cardiac and hepatic iron overload).
- Corticosteroid resistance
- Transfusion-dependent anemia
- Willingness to return for long-term follow-up
- Adequate renal and pulmonary function
- Able to undergo hematopoietic stem cell transplant (HSCT) mobilization and apheresis procedures. Key
Exclusion criteria
- Availability of a suitable, consenting HLA-identical sibling donor.
- Positive viral serology.
- Clinically significant, active bacterial, viral, or fungal infection.
- Any prior or current malignancy, myeloproliferative disorder, or myelodysplastic syndrome, except where therapy was curative excision (ie, in situ squamous cell carcinoma).
- Any concerning molecular or cytogenetic abnormalities in hematopoietic cells.
- Previous receipt of an allogeneic transplant or gene therapy.
- Immediate family member with a known or suspected Familial Cancer Syndrome (including, but not limited to breast, colorectal, ovarian, prostate, and pancreatic cancers, excluding DBA).
- Diagnosis of significant psychiatric disorder that could impact the subject's ability to participate in the study, in the opinion of the Investigator.
- History of complex allo-immunization, as determined by the Investigator.
- Women who are lactating/breast feeding or who plan to breastfeed within 6 months following APR-2020 infusion.
- Men and females of childbearing potential who are unwilling to practice highly effective methods of birth control through the duration of the study.
- Females with a positive serum pregnancy test at Screening or who are planning to become pregnant during the study period.
- Liver disease, as evidenced by critical iron overload with magnetic resonance imaging (MRI)
- Heart disease or Type 1 diabetes.
- Evidence of significant pulmonary hypertension, per Investigator assessment.
- Any other condition that would render the subject ineligible for HSCT, as determined by Investigator.
- Contraindication to stem cell or bone marrow aspiration, mobilization or collection including allergies to filgrastim or plerixafor.
- Currently enrolled in another investigational drug study or received an investigational study drug or procedure within 90 days of study enrollment.
- A physical or emotional status that would prevent giving informed consent, protocol compliance, or adequate follow-up.
- An assessment by the Investigator that the subject or parents of the subject will not comply with the study procedures outlined in the study protocol.
- Taking prohibited medications.
Where
- Stanford, California
- Boston, Massachusetts
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 May 15, 2026 · Source of record for eligibility and locations