RPS19 Eksikliğine Bağlı Diamond-Blackfan Anemisi (Diamond-Blackfan Anemia) Olan Çocuk ve Ergenlerde APR-2020'nin Güvenliliği, Tolere Edilebilirliği ve Etkililiği

Sade dilde özet

Bu çalışma, APR-2020 adlı bir gen terapisinin, RPS19 gen eksikliğine bağlı Diamond-Blackfan anemisi (Diamond-Blackfan anemia) olan çocuk ve ergenlerdeki güvenliliğini, tolere edilebilirliğini ve etkililiğini değerlendirmektedir. Çalışmaya, RPS19 eksikliği doğrulanmış, transfüzyona bağımlı ve kortikosteroide dirençli, 2-18 yaş arası kişiler katılabilmektedir. Çalışma Faz 1 aşamasında yürütülmekte olup halen katılımcı almaktadır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

Faz 1 (Phase 1)

Durum

Katılımcı alıyor

Sponsor

Apriligen, Inc.

Müdahale

APR-2020

Başlangıç

16.04.2026

Tahmini bitiş

01.09.2028

Ülkeler

United States

İlgili genler

Merkezler

• Stanford, United States
• Boston, United States

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Key Inclusion Criteria:

1. Confirmed diagnosis of RPS19-deficient DBA.
2. Signed informed consent by the subject or legally authorized representative.
3. Bone marrow analysis demonstrating normal cytogenetics except for RPS19-deficient DBA.
4. Subjects are between 2 and 18 years of age, inclusive.
5. Eligible for allogeneic marrow or stem cell transplant for DBA (non-critical cardiac and hepatic iron overload).
6. Corticosteroid resistance
7. Transfusion-dependent anemia
8. Willingness to return for long-term follow-up
9. Adequate renal and pulmonary function
10. Able to undergo hematopoietic stem cell transplant (HSCT) mobilization and apheresis procedures.

Key Exclusion Criteria:

1. Availability of a suitable, consenting HLA-identical sibling donor.
2. Positive viral serology.
3. Clinically significant, active bacterial, viral, or fungal infection.
4. Any prior or current malignancy, myeloproliferative disorder, or myelodysplastic syndrome, except where therapy was curative excision (ie, in situ squamous cell carcinoma).
5. Any concerning molecular or cytogenetic abnormalities in hematopoietic cells.
6. Previous receipt of an allogeneic transplant or gene therapy.
7. 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).
8. Diagnosis of significant psychiatric disorder that could impact the subject's ability to participate in the study, in the opinion of the Investigator.
9. History of complex allo-immunization, as determined by the Investigator.
10. Women who are lactating/breast feeding or who plan to breastfeed within 6 months following APR-2020 infusion.
11. Men and females of childbearing potential who are unwilling to practice highly effective methods of birth control through the duration of the study.
12. Females with a positive serum pregnancy test at Screening or who are planning to become pregnant during the study period.
13. Liver disease, as evidenced by critical iron overload with magnetic resonance imaging (MRI)
14. Heart disease or Type 1 diabetes.
15. Evidence of significant pulmonary hypertension, per Investigator assessment.
16. Any other condition that would render the subject ineligible for HSCT, as determined by Investigator.
17. Contraindication to stem cell or bone marrow aspiration, mobilization or collection including allergies to filgrastim or plerixafor.
18. Currently enrolled in another investigational drug study or received an investigational study drug or procedure within 90 days of study enrollment.
19. A physical or emotional status that would prevent giving informed consent, protocol compliance, or adequate follow-up.
20. 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.
21. Taking prohibited medications.