Bradford Diana, Reilly Karlyne M, Widemann Brigitte C, Sandler Abby, Kummar Shivaani
Department of Hematology/Oncology, Children's National Medical Center, Washington, DC 20010, USA.
National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Expert Opin Orphan Drugs. 2016;4(1):93-103. doi: 10.1517/21678707.2016.1120663. Epub 2015 Dec 9.
Rare tumors account for one fourth of adult tumors; in children, rare tumors represent approximately 15-20% of childhood malignancies, thus accounting for a significant burden of disease. The rarity of these individual diseases creates many challenges, from developing a thorough understanding of the disease pathophysiology, clinical characterization, to the conduct of meaningful clinical trials and eventually the development of effective therapies.
Despite these challenges, substantial advances have been made in recent years including the development of novel clinical trial designs and endpoints including molecularly driven treatment trials that have resulted in approval of novel therapies for rare diseases. Collaboration amongst basic and clinical researchers, patient advocacy groups, industry and regulatory agencies has proven successful in select cases and holds promise for future progress in the treatment of rare tumors. In this review, we will highlight several examples of trials for rare tumors, with a focus on examples from pediatric oncology, where strong, nationwide collaborative groups have existed for many years.
Future progress in developing therapies for rare tumors will depend not only on continued scientific advances, but also on collaboration between investigators from various disciplines, institutions, regulatory agencies and patient advocacy groups.
罕见肿瘤占成人肿瘤的四分之一；在儿童中，罕见肿瘤约占儿童恶性肿瘤的15%-20%，因此构成了重大的疾病负担。这些个别疾病的罕见性带来了诸多挑战，从全面了解疾病病理生理学、临床特征，到开展有意义的临床试验并最终开发有效的治疗方法。
尽管存在这些挑战，但近年来仍取得了重大进展，包括开发新型临床试验设计和终点指标，其中分子驱动治疗试验已促成多种罕见病新疗法获批。基础研究人员与临床研究人员、患者倡导组织、行业和监管机构之间的合作在某些案例中已被证明是成功的，有望推动罕见肿瘤治疗的未来进展。在本综述中，我们将重点介绍一些罕见肿瘤试验的例子，尤其关注儿科肿瘤学领域的例子，该领域多年来一直存在强大的全国性协作组织。
开发罕见肿瘤治疗方法的未来进展不仅取决于持续的科学进步，还取决于来自不同学科、机构、监管机构和患者倡导组织的研究人员之间的合作。
