TSC Alliance

Research program stimulates and supports basic, translational, and clinical research on the various manifestations of Tuberous Sclerosis complex (TSC) to further the development of clinical therapies and, ultimately, a cure for TSC. Directed by steven l. roberds, phd, chief scientific officer, the TSC Alliance research program builds and fosters collaborations between basic and clinical researchers by collecting and distributing TSC natural history data and biosamples, through collaborative preclinical and clinical research programs, and by hosting biennial international TSC research conferences.since 1984, the TSC Alliance has invested more than $44 million into TSC research projects through grants and contracts: $21.6 million in research grants and postdoctoral fellowships, $6.2 million into the natural history database and biosample repository, $14.3 million into the preclinical consortium, and $2.3 million into the clinical research consortium and clinical research network. Grant and fellowship applications are reviewed in a three-step process: (1) all applications are reviewed by a committee comprised of scientists knowledgeable about the topic area for scientific merit and of caregivers or adults affected by TSC for potential impact on the lives of those affected by TSC; (2) the science and medical committee of the board of directors evaluates the grant review committee's recommendations and the relevance of the applications to the TSC Alliance's funding priorities; and (3) the board of directors then reviews the recommendations of the science and medical committee and makes final approval for funding. For a complete list of currently funded projects and an archive of past awardees, please visit tscallianceorgresearchersgrantsfu... in 2006, the TSC natural history database (nhd) captures clinical data to document the impact of the disease on a person's health over his/her lifetime. The database serves as a resource of information that helps TSC researchers better understand the progression of the disease, design hypothesis-driven questions to hasten the discovery of new treatments and identify persons with TSC who are eligible to participate in research studies. As of december 2025, the natural history database contained 2,932 participants enrolled in the project from among 24 TSC clinic sites and through the TSC Alliance. The TSC Alliance provides funding to participating clinics to perform data entry, monitors the integrity of the database, and makes data available to investigators to answer specific research questions and identify potential participants for clinical trials and studies building upon the natural history database, the TSC biosample repository is a TSC alliance-directed project initiated in 2014 that will impact research for decades to come. The TSC Alliance's science and medical committee identified this as a gap that can only be filled effectively with leadership of the TSC Alliance, guided by a steering committee of clinicians, researchers and community members. High-quality biosamples such as blood, dna, and tissues linked to detailed clinical data are critical for researchers to understand why TSC is so different from person to person. Samples in the repository are linked to detailed clinical data in our existing TSC natural history database and are available to qualified researchers worldwide. Samples are housed at and distributed from the van andel institute in grand rapids, mi, under control of the TSC Alliance. As of december 2025, the biosample repository has acquired 3,117 blood, buccal (cheek) swab, or tissue samples. Since inception, 4,036 portions of samples have been distributed to 57 distinct researchers for 63 distinct projects.the organization continues to grow the biosample repository by collecting blood samples annually from participants who volunteer to do so, enabling researchers to study changes in proteins and other molecules in the blood over time; adding additional TSC clinics as participating biosample repository collection sites; and collecting blood using mobile phlebotomy, enabling people to donate samples regardless of where they live in the us and whether they are seen at a TSC clinic. Since the inception of our mobile phlebotomy initiative, we have acquired 635 blood samples via mobile phlebotomy. To encourage and enable more researchers to utilize biosamples, the TSC Alliance awarded three seed grants in 2025, totaling $57,952.64, to labs that submitted meritorious and innovative ideas for research on TSC biosamples.the TSC Alliance's whole-genome sequencing (wgs) initiative using dna from blood samples in our biosample repository has sequenced 242 samples since inception, with an additional 48 samples in process. This initiative supports clinical validation of variants found via wgs in either the tsc1 or tsc2 gene, and genetic results are offered back to participants along with a genetic counseling session free of charge to the family to help them better understand their unique TSC diagnosis and provide valuable information for future decision making such as family planning.in december 2021, the TSC Alliance added the TSC self-report portal to the TSC natural history database. This portal permits the collection of patient-reported outcomes on how TSC affects individuals and families, which will complement medical data in the natural history database. The purpose of this initiative is to help the TSC Alliance and TSC researchers better understand the perspective of those affected by TSC to develop tools to measure improvement in areas most important to the TSC community. Eventually, these measurements can be used to identify endpoints for clinical trials and evidence-based guidelines for treatment.one of the most impactful aspects of TSC on the quality of life for people living with TSC is tsc-associated neuropsychiatric disorders (tand). Therefore, the TSC Alliance's first use of the portal is through collaboration with the tandem project (empowering families through technology: a mobile-health project to reduce the tand identification and treatment gap) by allowing the community to complete the self-quantified tand checklist (tand-sq). At the end of 2025, 114 individuals had completed the tand-sq through the self-report portal.the TSC Alliance launched the TSC preclinical consortium in 2015 to help advance more drug candidates into clinical testing. To achieve this end, the preclinical consortium provides the infrastructure to foster collaboration between academia and pharmaceutical industry researchers and for access to resources designed to help facilitate drug development in TSC. Collaborating with the TSC community, the consortium has identified and implemented robust and reproducible cell and animal models for TSC manifestations including tumors, epilepsy, and tand. In 2022, the TSC Alliance entered into a partnership with the lam foundation to add lam mouse models to the preclinical consortium. The TSC Alliance has licenses to use specific TSC mouse models for experiments carried out by the preclinical consortium, and all mouse license agreements include the rights for the TSC Alliance to perform experiments under contract for commercial entities. This ensures data generated by the preclinical consortium can be used to accelerate the development of new treatments by commercial entities as well as academic investigators. Experiments are executed at partnering research institutions to ensure consistency in testing, data acquisition and interpretation. Epilepsy studies are conducted at psychogenics (us), and the tumor graft model and cell-based assays are conducted at porsolt (france). The van andel research institute, a non-profit research organization, maintains a colony of tsc2+/- aj mice and f l7-cre-tsc2 mice on behalf of the preclinical consortium. The preclinical consortium invites compound nominations from academic and industry researchers to continue to refresh our pipeline based on the latest data and novel ideas. The nominations are peer reviewed by consortium members and prioritized by the preclinical consortium steering committee for funding by the TSC Alliance. If the TSC Alliance funds the study, the data are shared with the consortium for transparency and stimulation of additional hypotheses. A members meeting is held annually to keep members engaged and aligned on the consortium's strategy and priorities. Partnership with pharmaceutical companies is an important aspect of the consortium, as these organizations have the infrastructure to efficiently move preclinical research findings to clinical testing and eventually commercial distribution. The preclinical consortium ended 2025 with 12 active industry partners, increasing the total number to 31 industry partners since 2016.

Public health education increases awareness of TSC throughout the general public to broaden the scope of support and understanding beyond TSC individuals and their families; these efforts also work to help reach the undiagnosed and newly diagnosed. During 2025, the TSC Alliance produced two issues of its National magazine, perspective, which is mailed to approximately 18,500 constituents as well as posted on the website. The TSC Alliance's podcast series, called TSC now, produced two episodes with 1,970 total listens. Six issues of the electronic TSC matters newsletter were distributed to 16,227 recipients. The TSC Alliance's website increases awareness and provides extensive education through a monthly average of 25,303 page views. The TSC Alliance also relies heavily on social media to educate constituents and promote new resources and events. Its private facebook TSC discussion group boasts more than 11,737 members from around the world, while its facebook page has 12,128 followers, linkedin has 2,797 followers, instagram has 4,436 followers and its youtube channel has 9,010 subscribers. To increase public awareness, the TSC Alliance participated in the 13th annual TSC global awareness day on may 15 as well as TSC awareness month throughout may. The TSC Alliance also heavily promoted infantile spasms awareness week (december 1 to 7). These awareness campaigns along with the organization's various news releases, digital ads, and social media outreach efforts culminated in more than 800 million cumulative impressions.

Support services is dedicated to supporting individuals and families affected by TSC through outreach programs, support services, improved medical access, and educational resources. In 2025, the TSC Alliance continued to advance its community support model through the community leadership hub, a platform to connect, manage, and recognize its 147 active volunteers. Across 14 community regions, these volunteers sustain a coordinated network that strengthens support for individuals and families affected by tsc.the community programs team invested more than 1,443 training hours to our leaders, to ensure they were well equipped to support and empower the TSC community. As a result, we provided 6,613 peer-to-peer support engagements and facilitated 102 school meetings, which involved TSC 101 training and iep consultations. In addition, six "ask an advocate" webinars attracted 490 registrants. The community programs team collaborated with key staff to host the 2025 transition webinar series with 268 live attendees and garnered 267 recorded views as of december 31, 2025. The TSC Alliance hosted three educational TSC regional conferences in waltham, ma, Iowa city, ia (with the opportunity to participate virtually), and los angeles, ca with a combined total of 210 in person attendees and 40 virtually (Iowa). The TSC Alliance's TSC navigator is an easy-to-use, interactive online tool to help guide individuals and families through the complexities of TSC across the lifespan, proactively manage their care, and live their fullest lives. Users can access information based on the age of one's diagnosis, such as prenatal, childhood, or adult, to help determine which steps will help empower them throughout their individual journeys. In 2024, as part of the TSC Alliance's website redesign, TSC navigator was expanded across more pages on the website. TSC navigator content had 89,932 page views in 2025 from 55,274 users. Support navigators assisted 317 families including 17 one-hour long support navigator calls. Three individuals or families were also supported for medication access issues via our TSC navigator program during 2025, down from 9 in 2024, consistent with the goal of proactively helping people avoid medication access issues.

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 2025 march on capitol hill was held on march 5 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 fy26 was co-sponsored by representatives fitzpatrick (r-pa) and raskin (d-md) and closed with 163 signers. The senate dear colleague letter was co-sponsored by senators cramer (r-nd) and heinrich (d-nm) and closed with 35 signers.congress passed a continuing resolution for fy25 that included a 57% cut to the congressionally directed medical research program (cdmrp). This cut was not made uniformly across all cdmrps and unfortunately resulted in no funding allocation to the tscrp in fy25 which ended september 30, 2025. However, TSC was added as one of the 56 qualifying topic areas under the peer reviewed medical research program (prmrp). $150 million was appropriated to this program in fy25 and the inclusion of TSC enabled TSC researchers to apply. The fy26 defense bill reinstated funding for the tscrp and included a $2 million increase going from $8 million in fy24 to $10 million. Total funding for the tscrp has been $131 million since 2002, additionally, fy26 also resulted in report language included in the labor, health, and human services appropriation for the National institutes of health (nih) requiring no less than $30 million be spent on TSC research across nih institutes. In 2024, TSC categorial spending at nih was $21 million (a $9 million increase). 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 a TSC funded award in fy2010 that led to 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 16 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 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 featured a testimony by a TSC family sharing how their lives have been impacted by TSC. TSC Alliance staff also presented a scientific poster at the annual society for neuroscience meeting and attended the biennial lamposium conference. The TSC Alliance participated in or presented at 24 professional meetings in 2025 including research america annual advocacy awards, defense health research consortium meeting, rad workshop, rare disease innovation and partnering summit, mallinckrodt advisory meeting, interagency collaborative to advance research in epilepsy (icare), nord, rdcrn meeting, czi workshop, angelman sfari-fast, tsci workshop, cb-pag advisory board meeting, isan in person workshop, american thoracic society (ats) international conference, the ats board of directors meeting, the lamposium conference, the montreal TSC providers conference, sfn, rddc coalition meetings, ats public advisory roundtable (par) planning meeting, cdmrp senate meeting, and american epilepsy society annual meeting.