General considerations for clinical trials design of gene therapy drug for β-thalassemia

VernacularTitle:β地中海贫血基因治疗药物临床试验设计探讨
Author: Yunhong HUANG ¹ ; Xiao LIU ; Chenyang ZHAO ; Shuang LU ; Chenyan GAO ; Jun MA
Author Information

1. 国家药品监督管理局药品审评中心，北京　100022
Keywords: Beta-thalassemia; Organisms, genetically modified; Clinical trials; Stem cells
From: Journal of Leukemia & Lymphoma 2022;31(11):697-700
CountryChina
Language:Chinese
Abstract: β-thalassemia is a single-gene genetic disease caused by β globin gene mutations leading to the fact that red blood cells are unable to form normal adult hemoglobin, and then patients develop hemolytic anemia. Current treatment regimens mainly include allogenetic hematologic stem cell transplantation, symptomatic regular blood transfusions and the use of iron removers to reduce iron load. Some severe patients have quite poor prognoses and deadly consequences if not treated timely. Genetically modified autohematopoietic stem cells can provide a new treatment option for patients with β thalassemia, which may achieve a long-term and stable increase in hemoglobin level through a single dose, making one-time cure β-thalassemia possible. This paper reviews the key elements of clinical trial design for β-thalassemia gene therapy from the aspects of efficacy evaluation endpoints, clinical trial design, enrollment population, and subject monitoring in order to provide a reference for pharma-therapeutic research and development enterprises.