Despite the unmet needs of patients living with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and the challenges facing a rare population with small patient numbers, now is a time of unprecedented opportunities to turn scientific breakthroughs into safe and effective treatments for families of CDD patients. New data collected for over a decade and an evolution in genetics technologies have resulted in transformational new treatments currently in development for CDD. This progress is in great part due to the patient advocacy efforts early on to drive development of stakeholder research tools necessary to de-risk industry entry into the CDD space, family participation in longitudinal natural history studies, and a robust caregiver-reported database. Cumulatively, these efforts offered new insights into CDD, specifically patterns in disease progression, helped identify the most burdensome symptoms to patients and caregivers, improved clinical trial design, and reduced financial barriers for therapeutic development for potential industry partners. This paper documents the growth of a small patient community through relationship building and collaboration. The International Foundation for CDKL5 Research is mindful of ongoing challenges namely the long research timelines, high development and production costs, and inequitable access to approved therapies. Therefore, sustaining strong early resources while recognizing opportunities that engagement, advocacy, and funding can accelerate progress remains at the heart of the agile foundation strategy.
Keywords: CDD; CDKL5; DEE; patient advocacy.
Recognizing inflection points throughout the growth of a patient advocacy group: remaining mission focused while pivoting to achieve foundation goals Effectively operating a rare disease patient advocacy foundation presents obstacles that are difficult to anticipate, yet there is silver lining in learning from opportunities lost to regroup and refocus on our mission. The IFCR initially formed to drive research forward and support families while fostering new scientists to study the disorder. This remains the core objective and the organization has successfully contributed to the development of a robust CDD community and important research assets to facilitated research progress. On the heels of the first approved treatment for CDD, we find ourselves contemplating our future in a much different light, asking propelling questions and making tough decisions. Given the constraints that most rare disease communities face, how can we best use limited resources? How can we partner with others to realize timely progress? What gaps exist that require CDD family thought leadership and engagement along the continuum of drug development? Reflecting on past years, it is remarkable how fast science is moving. Genetic therapies are under early development for CDKL5 Deficiency Disorder. We must prepare for any future we are afforded to trial disease-modifying treatments. Multistakeholder engagement is required pre-clinically, during clinical trials and post approval.
© The Author(s), 2024.