First of Its Kind Gene Therapy Model Offers Hope for X-Linked Sideroblastic Anemia Treatment
New model and vector could be instrumental in transforming the lives of XLSA patients and those with a broad spectrum of other diseases
Excerpt from the Press Release:
PHILADELPHIA, Jan. 2, 2025 /PRNewswire/ — Researchers at Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania Perelman School of Medicine pioneered a first of its kind gene therapy model that offers a potential breakthrough in treating X-linked sideroblastic anemia (XLSA), a rare congenital anemia caused by mutations in the ALAS2 gene crucial for the synthesis of heme, a key compound in hemoglobin. This study marks the first time researchers studied gene therapy to treat this disease, which the authors underscore could have an impact on a broad spectrum of diseases. The research was published today and featured on the cover of the journal Blood.
XLSA has traditionally impacted men under the age of 40, however, researchers noted that new cases of girls and mid-life women with the rare disease are beginning to emerge. Patients with XLSA experience a disruption in heme synthesis, leading to a spectrum of issues such as severe anemia and iron overload, which can cause symptoms like extreme fatigue, shortness of breath and growth delays. Most XLSA patients are dependent on pyridoxine supplements, which provide vitamin B6, and blood transfusions to treat the disease. The sole potential cure for XLSA is currently an allogenic stem cell transplant, which is only an option for a limited number of patients due to the need for a compatible donor, high cost and intense chemotherapy involved, which can have significant side effects.
In this study, researchers used a newly created preclinical model to evaluate for the first time whether gene therapy could offer a potentially transformative treatment for these patients. Carlo Castruccio Castracani, PharmD, PhD, the study’s lead author and the team’s Clinical Research Study Manager, used a targeted lipid nanoparticle (LNP) platform technology, established by Hamideh Parhiz, PharmD, PhD, a co-senior study author and Assistant Professor of Pharmacology at Penn Medicine, to induce the deletion of the Alas2 gene in hematopoietic stem cells.
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