Rationale:
Patient advocacy groups have a growing importance in the strategic decisions that frame the infrastructure for cures in rare epilepsies, particularly with the FDA’s increased emphasis on patient- focused drug development, clinical outcomes assessments (COAs), and patient-centered outcomes. The FDA has issued guidance for drug developers that promotes the inclusion of the patient and caregiver voice and encourages partnerships with patient advocacy organizations. Thus, the importance of thoughtful capital deployment by patient advocacy organizations in the epilepsies is paramount to advancing research and achieving a meaninful and impactful return on investment.
Since 2018, The FamilieSCN2A Foundation has awarded ~$4.5 million dollars in grants supporting 22 projects with the purpose of advancing and accelerating SCN2A-related disorder (SRD) research. This funding has established a foundation of knowledge and resources that have become self-perpetuating and are rapidly propelling The FamilieSCN2A Foundation towards its vision of a world with effective treatments and cures for all SRDs.
Methods:
Grants awarded by FamilieSCN2A Foundation have been tracked using an internal database system. Each grant awarded since 2018 has been closely followed to track the amount of subsequent funding the grant has received, along with various deliverables (including animal models, cell lines, biomarkers, grant submissions, presentations, etc) that have been a result of the initial funding from FamilieSCN2A Foundation.
Results:
Specifically, the funding mechanisms by FamilieSCN2A have directly resulted or contributed to the following: 1) Approximately $22 million in subsequent funding, 2) 46 publications and presentations, 3) Seven additional grants being funded with multiple others currently in submission, 4). The development of multiple promising novel SCN2A therapeutics, 5). The development of three novel SCN2A clinical biomarkers, 6). The creation of five SCN2A experimental animal models, 10 SCN2A experimental cell lines, and one SCN2A computation model, 7). The execution of a SCN2A natural history study, 8). The creation of a SCN2A portal, and 9). The validation of multiple clinical trial outcomes assessments.
Conclusions:
Patient advocacy groups are instrumental to advancing research in the epilepsies, and thoughtful capital deployment by advocacy organizations is essential to their return on investment. Given the increased interest by the FDA and other stakeholders to include patient advocacy organizations in the drug development process, it is imperative that patient advocacy organizations consider the impact of their dollars and how these investments may generate further research in their respective diseases.
Funding:
FamilieSCN2A Foundation