NATIONAL TUBEROUS SCLEROSIS

Public health. See schedule o for full program description.

Government relations efforts focus on increasing federal and state appropriations for tsc research, raising awareness, and collaborating with government partners to drive tsc research forward and improve clinical care and treatment options for individuals with tsc. On the state level, the tsc alliance advocated for state funding for tsc centers in alabama, missouri, and maryland, resulting in at least $1.275 million in state appropriations. The 2024 march on capitol hill was held february 28 with congressional meetings taking place through mid-march. More than 130 people participated in over 367 in-person and virtual meetings. Our house dear colleague letter for fy25 was co-sponsored by representatives fitzpatrick (r-pa) and raskin (d-md) and closed with 185 signers. The senate dear colleague letter was co-sponsored by senators cramer (r-nd) and heinrich (d-nm) and closed with 41 signers.total funding for the tscrp has been $121 million since 2002, including a $8 million appropriation for fy24. Research performed through this program has recently led to additional clinical trials including determining if imatinib, a drug fda-approved for cancer, can safely improve levels of vegf-d, a biomarker of lymphangioleiomyomatosis (lam), a life-threatening lung manifestation of tsc, funded in fy2013; two tscrp awards in fy2012 and fy2015 that enabled generation of a potential approach for gene therapy of tsc, which has shown promising results in a mouse model of tsc tumors in the brain; a multi-site clinical trial testing the efficacy of an experimental topical rapamycin cream to treat the disfiguring facial tumors, called facial angiofibromas, caused by tsc funded in fy2010 that led the third fda-approved drug to treat tsc in april 2022; and a clinical research network that was created to test potential new therapies, to validate biomarkers, and to learn the natural history of leading to a clinical trial funded in fy2012. Data obtained from an fy2010 tscrp clinical research award to define early autism predictors in tsc and an fy2014 tscrp award for a pilot clinical trial is being tested in a large, nih-funded clinical trial looking at the effectiveness of a behavioral intervention strategy, jasper, to improve outcomes in children with autism. The tscrp has also funded research to develop animal models of tsc that have seizures, enabling a better understanding of the etiology of tsc. Based on data from tscrp-funded animal models of tsc that have seizures and share pathology related to that of traumatic brain injury, an industry-sponsored clinical trial demonstrated the effectiveness the mtor inhibitor, everolimus, at treating epilepsy in many individuals with tsc. None of this progress would have been possible without the critical support provided through the tscrp.global outreach works to address unmet needs within the global tsc community. The program provides the opportunity for the tsc alliance to share experiences and assist in the start-up of support of tsc-related organizations in other countries. A global alliance is a structured group of empowered and caring volunteers who work closely with the tsc alliance to facilitate local connections for individuals and families affected by tsc and raise revenue and awareness while supporting the mission of the organization. The tsc alliance has five global partnerships, including tsc alliance of israel, ts canada st, tsc alliance of mexico, hungarian foundation for tuberous sclerosis, and tsc alliance of india. The tsc alliance recognizes 14 tsc clinics in global alliance countries. Professional education expands programs to target researchers and healthcare providers caring for individuals with tsc, medical students, genetic counselors and educators to minimize the consequences of ignorance and misinformation. The tsc alliance exhibited at the american epilepsy society annual meeting. Staff members and a volunteer shared educational materials with attendees who visited the booth, and staff presented data at a poster session, attended scientific sessions, and held many meetings with academic and industry partners. Staff also participated in the tsc special interest group session, and the tsc alliance hosted more than 100 people at a reception which included a video presentation of how people's lives have been impacted by tsc, how research has made tremendous impact, and how much is left to be done to cure, or fully treat, tsc.the tsc alliance participated in or presented at 24 professional meetings in 2024 including research america annual advocacy awards, amgen future of ucds advisory board meeting, ats corporate advisory board meeting, boston children's hospital translational research symposium, ean congressional briefing, interagency collaborative to advance research in epilepsy (icare), health research alliance: convening on bullying and harassment forum, infantile spasms action network governance meeting, bridgebio town hall, tandem mini symposium, mnk advisory board meeting, ninds nonprofit forum, rare disease diversity coalition, tsci workshop, tand consortium, tsc reproductive & perinatal task force workshop, cpath global impact conference, global genes rare summit, boston children's hospital translational research symposium, pcori annual meeting, rdcrn fall meeting, aes, and the milken institute future of health summit.