Behind the Scenes of Rare Disease Clinical Trials

Patricia: Many!  From developing patient reported outcomes that assess what is meaningful to the patients and their families for that specific disease, to finishing a pivotal study in a rare pediatric epilepsy that led to approval of a new treatment, to small things like helping a very small PAO for an ultra rare disease systematically collect data via a survey from other patients with that disease across the globe, all can be considered breakthroughs for rare disease patients.  

ICON has been involved with development programs that have led to approval of 60 new treatments for rare diseases.  Given that only about 5% of the more than 10,000 rare diseases that have been identified have approved treatments, this is impressive.  And ICON continues our research record in rare diseases, supporting 779+ studies in rare diseases in the past 5 years.  

Patricia: Limited knowledge about the condition itself i.e., by Sponsors, investigators, ICON team, often even the patients and caregivers themselves.  There is often no preclinical data or animal model to understand how a potential treatment might work, and there is a need for natural history studies and registries to obtain basic, systematic data about what the disease is, its symptoms, course of illness, etc. Patient recruitment can be difficult, because of the few numbers of patients with the condition, but this is mitigated with bespoke, tailored approaches to providing access to being in a study and knowledge about how clinical trials work in general.  

Patricia: In general, medicine will become more personalized with advanced therapies and precision medicines, which will be to the benefit of the rare disease clinical development landscape.  There are methods that have been used with success in Oncology (e.g., CAR-T therapies) that are now being evaluated in autoimmune disorders.  Antibody-drug conjugates are an exciting new methodology that may be useful for delivering precision medicines in a number of rare disease indications.  

Patricia: Learn as much as you can from patients and their advocacy organization about how the patients are living their everyday lives for every condition you want to work in. This will help provide insights into operational, logistic, and methodological approaches to progressing the clinical research in that condition.

Rare disease research presents unique challenges, but it also offers immense opportunities to make a meaningful impact on patients’ lives. As Patricia and Simeon have shared, success in this field requires scientific expertise, operational agility, and a deep commitment to collaboration. 

At ICON, we are proud to support innovative clinical trials that bring new hope to individuals and families affected by rare conditions. By continuing to push the boundaries of research, we can help transform the future of rare disease treatment - one breakthrough at a time.