2025 International TSC Research Conference

Tuberous Sclerosis Alliance, Silver Spring MD

Investigators

Abstract

Tuberous sclerosis complex (TSC) is a rare, life-threatening disorder caused by germline or sporadic mutations in TSC1 or TSC2 genes (1). Individuals with TSC are at high risk of epilepsy, autism and other neuropsychiatric conditions, and other manifestations impacting the skin, lungs, brain, and kidneys (1). The Specific Aims of this international conference are to [1] inspire new research directions by exposing trainees and researchers from outside the field to the latest research developments in TSC and other relevant fields, and [2] stimulate collaborative research to address unmet medical needs of those affected by TSC as well as related disorders, including epilepsy, autism, lymphangioleiomyomatosis (LAM), and rare diseases with overlapping phenotypes. These Aims are important and timely because: • This conference builds upon recommendations published in 2016 from an NINDS-sponsored workshop to update a 10-year Research Plan for TSC (2). • Neurological (e.g., epilepsy) and psychiatric issues have a severe impact on quality of life in individuals with TSC and related disorders. Despite use of multiple anti-seizure medications, treatment fails in approximately two-thirds of cases because the underlying relationship of seizure types and severity to neuropathology and genetics is poorly understood (3). • Although the mTOR inhibitors sirolimus and everolimus have been approved by the FDA for treatment of LAM, focal-onset seizures, and specific brain, renal, and skin tumors associated with TSC, mTOR inhibition only shrinks and stabilizes LAM progression and tumor growth. Tumors will grow again if drug treatment is stopped, so a need for more long-lasting and more tolerable treatments exists. • Clinical trials to find ways to better treat or prevent epilepsy, neuropsychiatric disorders, and tumor growth require international collaborations to achieve adequate statistical power in a rare disease whose phenotype varies from person-to-person. The conference will achieve its Aims through: • Sponsoring a half-day TSC Early Career Researcher (ECR) Symposium on June 26, before the main conference begins, and by including ECRs and senior researchers in all plenary sessions June 26-28. • Bringing trainees and junior faculty selected from submitted abstracts to the Early Career Researcher Symposium and research conference to (a) engage with other trainees and early-stage investigators regarding issues unique to their career stage, (b) share their data in platform and poster presentations with feedback on their science and on their presentation skills, and (c) expose them to broader research opportunities (e.g., industry, patient advocacy) in the field of TSC and related disorders. • Assembling researchers at all career levels and with various degrees of TSC-specific experience in an environment conducive to learning, networking, and building opportunities for future collaboration. • Platform sessions designed specifically to facilitate cross-specialty understanding by combining in the same session—to the extent reasonably possible—basic, translational, and clinical research data. The TSC Alliance is uniquely qualified to host this conference because it is the largest TSC-focused patient advocacy organization in the world and has a long-standing history of international inclusion within the TSC community. The TSC Alliance’s mission is to improve quality of life for everyone affected by TSC by catalyzing new treatments, driving research toward a cure, and expanding access to lifelong support. TSC Alliance participates in and obtains funding to support TSC International, a consortium of TSC patient advocacy organizations around the world. The TSC Alliance also expands TSC research and access to clinical care through formal partnerships called Global Alliances in Canada, Hungary, India, Israel, Mexico, and Thailand. Importantly, this conference differs from recent TSC Alliance-sponsored conferences: • To ensure concepts presented differ meaningfully from previous conferences, 10 of the 13 invited speakers were not invited speakers at either the 2021 virtual or the 2023 in-person conference. • To ensure new individuals are involved in shaping the 2025 conference while maintaining some continuity of knowledge from past conferences, 7 of the 9 organizing committee members attended the 2023 conference while only 4 attended the 2021 virtual conference. This conference will impact future research on TSC and related disorders via these expected outcomes: • Engagement of trainees and junior faculty with opportunities in TSC and related disorders. • Collaborative research ideas arising from networking with researchers from outside of the TSC field.