Authors :
Presenting Author: Vanessa Vogel-Farley, BA – Rare Epilepsy Network
Christina Saninocencio, PhD – Fairfield University
Ilene Miller, JD, LLM – Rare Epilepsy Network
Priya Balasubramanian, PhD – CURE Epilepsy
Caitlin Grzeskowiak, PhD – Epilepsy Foundation
Karen Utley, BSN, RN – International Foundation for CDKL5 Research
Dennis Lal, PhD – Department of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA
Rationale:
The therapeutic landscape for rare epilepsy syndromes is rapidly evolving, with increasing clinical trials and emerging gene therapy approaches. However, distribution and accessibility of these opportunities across rare epilepsy communities remain unclear. Understanding current clinical trial activity and gene therapy development is essential for identifying gaps and guiding resource allocation. Patient advocacy organizations are increasingly essential partners in rare disease research, yet little is known about their capacity to engage. The Rare Epilepsy Network (REN), est. 2013, a coalition of more than 150 rare epilepsy advocacy organizations, has tripled in size in four years. REN's experience positions it uniquely to observe trends across this landscape. REN launched a survey to identify research priorities, assess challenges, and guide community strategy. This abstract reports findings from the 2024 REN Membership Survey, highlighting needs and gaps that shape how rare epilepsy organizations contribute to science.
Methods:
REN conducted an electronic survey of its membership organizations to assess current clinical trial activity and gene therapy development efforts. The survey captured data on ongoing and planned clinical trials, gene therapy approaches under development and barriers to therapeutic access within rare epilepsy communities.
Results:
73 organizations responded to the survey. The data shows robust drug development pipelines across rare epilepsy organizations with significant activity. However, clinical trial activity varied significantly, with 33% of organizations reporting ongoing clinical trials, while 38% reported no ongoing or planned trials. Gene therapy development showed similar disparities, with only half of communities having approaches under development. This indicates inequality in therapeutic access across rare epilepsy syndromes. The diversity in leadership models indicates a maturing ecosystem where organizations are finding optimal roles in drug development. This suggests the rare epilepsy community has moved beyond early-stage interest into active development, with sophisticated partnership models emerging. The prevalence of repositioning efforts indicates pragmatic approaches to faster therapeutic access, while strong Public-Private Partnerships suggest successful resource leveraging.
Conclusions:
Despite the development of approximately 40 anti-seizure medications to treat seizure symptoms, the transition to precision interventions addressing underlying disorder causes is needed. The epilepsies present one of the most robust pipelines for this therapeutic approach. There is strong desire to find therapies cutting across disorders beyond individual development. The data reveals significant disparities in therapeutic development across rare epilepsy communities. While some conditions benefit from active clinical trials and gene therapy development, many rare epilepsy syndromes lack access to these opportunities. With 38% of organizations having no ongoing or planned clinical trials, and only half developing gene therapy approaches, there's urgent need for more equitable distribution of research efforts across the rare epilepsy landscape.
Funding: N/A