The Comparative Health Outcomes, Policy, and Economics (CHOICE) Institute, University of Washington.
Department of Health Services, University of Washington, Seattle, Washington, United States.
Expert Rev Pharmacoecon Outcomes Res. 2022 Sep;22(6):891-911. doi: 10.1080/14737167.2022.2060823. Epub 2022 Apr 18.
Sickle cell disease (SCD) is a rare genetic disease with limited therapeutic options. Gene-based therapies are being investigated in clinical trials to evaluate their curative potential. The expected life-long benefits of one-time administration of genetically corrected stem cells present uncharted challenges in estimating value of these treatments. Our objective is to conduct a landscape analysis of clinical trials and prompt a discussion estimating the value of gene therapy as a therapeutic option for SCD.
We searched to identify and characterize clinical trials in gene therapies for SCD. We report available results and discuss current concerns and elements of value necessary to consider as these products come to market.
Gene therapies could represent a major advance in SCD treatment. Although clinical trials are ongoing, reports of serious adverse events have led to pause of these trials, emphasizing the need to prove long-term tolerability. Measured using the methods of health economic evaluation, we anticipate high up-front costs may be offset by potential life-long benefits of these treatments. During development and after treatment approval, attention should be focused on ensuring adequate availability and equitable access to emerging therapies in underserved areas and low-middle-income countries (LMIC).
镰状细胞病（SCD）是一种罕见的遗传性疾病，治疗选择有限。基因疗法正在临床试验中进行研究，以评估其治疗潜力。一次性给予基因矫正干细胞有望带来长期的获益，但如何评估这些治疗方法的价值，这在以前是没有过的。我们的目的是对临床试验进行全景分析，并就基因治疗作为 SCD 治疗选择的价值进行讨论。
我们在 中搜索了 SCD 基因治疗的临床试验，并对其进行了识别和特征描述。我们报告了现有结果，并讨论了当前的关注点和价值要素，因为这些产品即将上市。
基因疗法可能代表 SCD 治疗的重大进展。尽管临床试验正在进行，但严重不良事件的报告导致这些试验暂停，这强调了需要证明长期耐受性。根据健康经济评估方法进行衡量，我们预计这些治疗方法的前期高成本可能会被潜在的终生获益所抵消。在开发过程中和治疗批准后，应重点关注确保在服务不足地区和中低收入国家（LMIC）有足够的供应和公平获得新兴疗法。
