A novel natural history study of medullary thyroid carcinoma: Incorporating the patient perspective to inform advanced disease management

摘要 甲状腺髓样癌(MTC)是一种罕见的肿瘤，目前在美国的发病率为13,500人 美国人。晚期疾病是致命的；宫颈外转移的患者有5年和10年的存活期 利率分别为26%和14%。在几十年有限的有效治疗方法之后，食品和药物 政府最近批准了两种新药，Vandetanib(2011)和Cabozantinib(2012)用于治疗 进行性的、转移性的MTC；不幸的是，这些药物不能治愈，对治疗的反应不持久， 由于这种疾病的罕见，个人机构和研究人员的经验仍然有限。作为一名 结果，专家临床医生对最佳药物使用留下了悬而未决的问题，而且还在继续 是创新药物研究的需要。生活质量并没有明确地被研究为治疗的目标 对任何一种药物的试验，或者对晚期MTC患者如何做出服药决定知之甚少 这些新批准的药物和/或参与临床试验。这项研究的目标是描述 通过利用多机构登记册了解技术和技术合作的自然历史 进展性疾病需要药物治疗，并首次整合患者视角，以便 确定患者报告的结果衡量标准，在当前治疗中需要考虑并纳入临床 试验设计。这一数据将为治疗晚期MTC的新兴药物疗法提供参考。 这项研究将收集全面的自然历史，从纵向上充分描述这种疾病的特征 确定人口学、临床、病理和基因分型预测因素的临床和患者视角 进展到需要批准药物或参加临床试验的高级MTC，以及患者对 这样的疗法。此外，这项研究将描述患者在MTC进展期的经历 通过对患者报告的结果(PRO)进行系统的、纵向的评估来启动治疗 与疾病相关，包括生活质量、症状和其他结果。

Abstract Medullary thyroid carcinoma (MTC) is a rare tumor with a current prevalence in the United States of 13,500 Americans. Advanced disease is mortal; patients with extra-cervical metastases have 5- and 10-year survival rates of 26% and 14%, respectively. After decades of limited effective available therapies, the Food and Drug Administration recently approved two new drugs, vandetanib (2011) and cabozantinib (2012), for the treatment of progressive, metastatic MTC; unfortunately, these drugs are not curative, response to therapy is not durable, and individual institutional and investigator experience remains limited due to the rarity of the disease. As a result, expert clinicians are left with unanswered questions regarding optimal drug use, and there continues to be a need for innovative drug research. Quality of life was not definitively studied as a goal of therapy in the trials for either drug, or little is known about how patients with advanced MTC make decisions regarding taking these newly-approved drugs and/or participating in clinical trials. The goal of this research is to describe the natural history of MTC via the utilization of a multi-institutional registry in order to understand the pathway to progressive disease requiring drug therapy, and integrating for the first time the patient perspective in order to identify patient reported outcome measures necessary to consider in current treatment and to include in clinical trial design. This data will inform emerging drug therapies for advanced MTC. This study will gather a comprehensive natural history to fully characterize the disease longitudinally from both the clinical and patient perspectives to identify demographic, clinical, pathologic, and genotypic predictors of progression to advanced MTC requiring approved drugs or enrollment in clinical trial, and patients’ response to such therapy. Additionally, the study will characterize patients’ experience with the progressive stages of MTC and treatment initiation through a systematic, longitudinal evaluation of patient-reported outcomes (PROs) that are relevant to the disease, including quality of life, symptoms and other outcomes.