Since our humble beginnings, the TSC Alliance has funded nearly $27.7 million in support of basic, translational and clinical research. The funding has supported research on the genetics of TSC, basic mechanisms of both tumor growth and central nervous system manifestations of TSC, translational research, and clinical trials, as well as the development of research tools such as biomarkers, animal models, and a database of TSC1 and TSC2 genetic variants. TSC Alliance-funded research continues to play a vital role by encouraging and fostering collaborations between basic and clinical researchers.
As part of our advocacy for research and promoting young investigators, we funded and cultivated a new generation of senior scientists. By supporting small, short-term research projects we have enabled researchers to produce data on which to build applications for funding of much larger projects from other sources. This seed funding, combined with a dedicated Government Advocacy Team pressing for Federal research funding, has leveraged an additional $482 million in research grants in the past 18 years from the National Institutes of Health (NIH) and the Department of Defense’s Tuberous Sclerosis Complex Research Program (TSCRP).
In our quest for a cure, funds provided by the TSC Alliance for more than a decade have contributed to a number of significant scientific breakthroughs. TSC Alliance-sponsored research helped support the identification of the two genes that cause TSC, develop a genetic test and initiate the first clinical trials in TSC. Today, because of this very early research and basic scientific understanding of the disease, there are currently three FDA-approved indications for TSC – two for the treatment of brain and kidney tumors common in TSC, and a third to treat seizures common in TSC. As a critical driver of TSC research around the world, the TSC Alliance has been an active collaborator in amazing advances, including the discovery of a predictive biomarker of which infants with TSC would develop epilepsy leading to the first ever preventative clinical trial for epilepsy in the United States. This same study design may be able to be replicated in many other genetic causes of epilepsy and for other manifestations of TSC.
Donors Drive Innovative Research
The TSC Alliance partners with donors making significant pledges to create named funds that accelerate TSC research focused on tangibly impacting the lives of their loved ones affected by TSC and others. Below is a summary of our current named funds:
Established by James and Andrea Maginn in 2020, the Abigail and Amelia Clinical Accelerator at the TSC Alliance is named after their granddaughters with TSC, Abigail and Amelia Cooper. This fund has the following goals:
- Developing patient-reported outcomes as a resource for future drug approval for FDA.
- Developing evidence-based guidelines for care by gathering new types of data through the Clinical Research Consortium and Natural History Database.
- Providing clinical accelerator funds to support clinical trial implementation and leverage grants from NIH and industry.
- Underwriting the cost of a Director of Medical Affairs to provide support services for treatment access, oversee patient-focused data collection and assist with clinical trials.
Established in partnership with Lorne and Heidi Waxlax in December 2019, the Waxlax Biosample Collection Initiative began collecting blood samples from individuals with TSC of any age from the convenience of their home using the mobile phlebotomy. This enables people to donate samples regardless of where they live in the US and whether they are seen at a TSC Clinic. The TSC Alliance will also continue 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 to see whether certain changes in the blood can predict future risk of disease progression.
Established in 2021, the Will and Kay Cooper TSC Mental Health Fund is paving the way for new neurological research by focusing on the following goals:
- Creating patient-reported outcomes for mental health issues and seizure quality of life in TSC to capture real and anonymized family/individual experience and as a resource for future drug approval for US Food & Drug Administration.
- Developing evidence-based guidelines for TSC-Associated Neuropsychiatric Disorders (including mental health issues) by gathering expanded types of data through the Natural History Database.
- Establishing TSC-Associated Neuropsychiatric Disorders animal model for drug testing and test new novel compounds and repurposed drugs.
- Providing funds to accelerate clinical trials to bring new treatments for TSC-Associated Neuropsychiatric Disorders, including mental health issues, and epilepsy to market.
In December 2019 Bcureful and the TSC Alliance announced plans to formally combine efforts by establishing the Bcureful Travel Fund at the TSC Alliance. Donations to the fund help provide patients diagnosed with TSC with financial assistance for travel and lodging related to participation in a clinical trial or furtherance of treatment for the disease. The TSC Travel and Lodging Patient Assistance Program is administered by the National Organization for Rare Disorders (NORD).
If you are interested in learning more about establishing a named research fund, please contact TSC Alliance Vice President, Donor Relations Lisa Moss at firstname.lastname@example.org.