Corbacioglu, Selim and Frangoul, Haydar and Locatelli, Franco and Hobbs, William and Walters, Mark (2024) Defining curative endpoints for transfusion-dependent β-thalassemia in the era of gene therapy and gene editing. AMERICAN JOURNAL OF HEMATOLOGY, 99 (3). pp. 422-429. ISSN 0361-8609, 1096-8652
Full text not available from this repository. (Request a copy)Abstract
beta-thalassemia is a monogenic disease that results in varying degrees of anemia. In the most severe form, known as transfusion-dependent beta-thalassemia (TDT), the clinical hallmarks are ineffective erythropoiesis and a requirement of regular, life-long red blood cell transfusions, with the development of secondary clinical complications such as iron overload, end-organ damage, and a risk of early mortality. With the exception of allogeneic hematopoietic cell transplantation, current treatments for TDT address disease symptoms and not the underlying cause of disease. Recently, a growing number of gene addition and gene editing-based treatments for patients with TDT with the potential to provide a one-time functional cure have entered clinical trials. A key challenge in the design and evaluation of these trials is selecting endpoints to evaluate if these novel genetic therapies have a curative versus an ameliorative effect. Here, we present an overview of the pathophysiology of TDT, review emerging gene addition or gene editing therapeutic approaches for TDT currently in clinical trials, and identify a series of endpoints that can quantify therapeutic effects, including a curative outcome.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | STEM-CELL TRANSPLANTATION; FETAL-HEMOGLOBIN; MAJOR PATIENTS; DISEASE; TRIAL; IRON; DEFEROXAMINE; DEFERASIROX; DEFERIPRONE; EFFICACY |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Hämatologie, Onkologie und Stammzelltransplantation |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Apr 2024 05:59 |
| Last Modified: | 04 Mar 2025 08:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/59736 |
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