The Ultramarathon of Gene Therapy Development for Rare Diseases: How Can We Cross the Finish Line Together?

Abstract

The promising developments in gene and cell therapy bring an array of hope to the >7000 rare disease patient communities, of which 90% to 95% are still working toward a treatment. However, the pace of gene and cell therapy development pathways often resembles ultramarathon relay races that potentially span decades. It is a pace that is incongruent to the sprint that most individuals with rare diseases and their families are living and working in pursuit of life-saving treatments. It is also challenging for the medical professionals, academic researchers, and pharmaceutical partners working tirelessly to bring a treatment to reality. Gene and cell therapy development programs can have many parallels to an ultramarathon, including extensive training and preparation leading up to clinical trials, selecting inclusion and exclusion criteria, supporting trial participants, and creating support teams. All aspects of the development course carry the greatest hope that as many treatments as possible can cross the finish line. Drawing on this analogy, perspectives and insights from a patient family member and rare disease advocacy leader in a community that has experienced its first clinical trial of gene therapy is shared. Bringing attention to these experiences, challenges, barriers, and potential learnings from a patient family perspective will likely encourage continued improvements in development of patient-driven gene and cell drug and therapy for the rare disease community.