Developing therapies for rare tumors: opportunities, challenges and progress

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.