By Gretchen Williamson MD, FAAP, Medpace Medical Monitor
Developing treatments for rare diseases and orphan indications provides a special opportunity to make a truly meaningful, innovative contribution to the field of medicine. Although it is very rewarding to help advance the treatment of conditions with unmet medical needs, such studies also provide special challenges in terms of study design, site identification, patient recruitment, and operational logistics. The unique physiology of such patients often translates into specialized clinical endpoint assessments, which require thorough study team training and thoughtful procedural planning. In addition, safety assessments and laboratory monitoring must often be tailored to ensure adequate and appropriate monitoring of safety in the context of the underlying condition. Rare diseases are often associated with significant patient fragility and mobility issues, so that relatively routine procedures, such as height/weight assessments, blood draws, and imaging studies, often require careful planning to ensure accuracy and minimization of distress and discomfort.
Many of the trials conducted for investigational products with orphan designation involve pediatric patients. The complex nature of conducting rare disease studies, especially studies in a pediatric population, demands that the study team has a thorough medical understanding of the disease, as well as the issues surrounding its epidemiology. In addition, it is important that the team recognizes the vulnerability of the patient population and the ethical considerations related to pediatric and rare disease clinical trials, including a comprehensive understanding of the unique concerns raised by IRBs/ethics committees, Investigators, and parents.
The Medpace team has extensive experience with rare disease and orphan indications, including multiple studies in pediatrics. The following sections describe some of the strategies and creative problem-solving tactics our team has employed to overcome unique challenges associated with conducting these studies.