(624) Rare Epilepsy Landscape Analysis (RELA)

Rationale: Rare epilepsy diagnoses and organizations (Rares) are increasing. The Rare Epilepsy Landscape Analysis (RELA) was conceived to take stock of the emerging rare epilepsy ecosystem to inform the strategic utilization of scarce dollars, people, and resources.

Methods: Broad epilepsy stakeholder outreach identified 75 rare epilepsy organizations. A volunteer advisory committee developed and tested a ten-part 111-question survey covering background, priorities, and challenges. The survey was built in Qualtrics. Forty-four complete responses were received.

Results: Rare epilepsy organizations founded by parents of children with rare conditions motivated by a lack of information, research, and treatment have been growing. Most organizations are based in the United States but serve international constituencies. Thirteen organizations reported having 1+ full time employee; 20 are run by volunteers. Two organizations reported net assets of $1M+. 13 had more than $200k. Fifteeen had net assets of < $199K.
Information and support priorities were connecting patient to patient (26) and connecting patient to specialist (26), followed by diagnosing patients early (20) and developing educational tools (19). Challenges were delivering services to disparate patients (11); providing specialized support across a broad spectrum of disorders (9); and the lack of professional collaboration (6). Thirty-three groups reported their patient populations were both racially and economically diverse. Some shared inequities in digital literacy and access to healthcare and genetic testing. Developing rare multidisciplinary clinics (29) topped priorities.
Funding translational science (21); developing natural history registries (18); and understanding the mechanism of disease (13) were research priorities. Incidence and prevalence reports were variable and difficult to compare with only 13 organizations reporting incidence and 17 reporting prevalence. Thirty-eight of 44 organizations reported a known gene, ring or deletion. Thirty-eight reported no cures.
Twenty organizations reported natural history registries including with 20 to 2,200 enrollees with costs from $3,500 to upwards of $5 million annually. Rares expressed concern about registry sustainability. 27 organizations reported funding research with 14 reporting a research investment of $3.6M for FY2018. Collaborations included the development of Clinical Quality Care Scales (26); shared biorepositories (24); and Rare Epilepsy Centers of Excellence (23).
Professional Education priorities included educating professionals to diagnose diseases (24); developing and disseminating best clinical practices (24); and seeding collaborations among institutes and disciplines (22). Key messages targeting neurologists included considering each patient’s unique circumstances, being alert to signs and symptoms of Rare diagnoses, and not dismissing comorbidities.

Conclusions: Rare epilepsies and the organizations that represent them are growing. Critical priorities are aligned and ripe for collaborative endeavors across Rares.

Funding: Please list any funding that was received in support of this abstract.: A contract from the Epilepsy Foundation underwrote the RELA analysis.
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