Abstracts

Rationale: To facilitate the study of why tuberous sclerosis complex (TSC) affects each individual differently or which individuals might respond better or poorly to certain treatments, the TSC Alliance built the TSC Biosample Repository (BSR). Samples in the repository are linked to detailed clinical data in the TSC Natural History Database (NHD) and are available to qualified researchers worldwide.

Methods: The BSR began collecting biosamples in early 2016 and as of May 2021 houses a collection of more than 1,700 biospecimens including plasma, white blood cell pellets, DNA isolated from white blood cells and buccal cells, and remnant surgical tissue including brain, kidney, and liver, and a subset of postmortem tissues for use by researchers studying TSC. Many DNA and blood samples were collected in collaboration with the TSC Clinical Research Consortium’s clinical trials. Our biosamples are linked to detailed clinical data in the NHD, allowing applicants to request subsets of biosamples based on clinical phenotypes, age, biological sex, and other criteria. Additional data from the NHD relevant to the project may be requested for each sample. A condition of receiving biosamples is that data must be shared back with the TSC Alliance, creating a continually growing dataset on these samples to be shared with researchers who request samples in the future. The BSR also provides researchers access to the TSC1- and TSC2-knockout HEK293T cell lines from the Nellist laboratory at Erasmus MC. All biosamples are stored at the Van Andel Institute in Grand Rapids, MI.

Results: More than 1000 samples have been shared with researchers, and a clinical trial was initiated in 2020 based on results from BSR plasma samples. The TSC Alliance introduced mobile phlebotomy in December 2019 as part of the Waxlax Biosample Collection Initiative to permit anyone with a confirmed diagnosis of TSC to participate in our research projects regardless of where they live or where they go for their TSC care. As of May 2021, 92 constituents have provided samples this way, increasing the geographic diversity of the BSR.

Conclusions: In four years of operation, the TSC Biosample Repository has already impacted and accelerated research. Additional sharing of biosamples and increasing the number and diversity of biosamples promises to further advance the understanding and treatment of epilepsy and other manifestations of TSC.

Funding: Please list any funding that was received in support of this abstract.: The TSC Biosample Repository is governed and wholly funded by the TSC Alliance thanks to generous support from Lorne Waxlax, Bill Watts, the Cowlin Family Fund, the Engles Collaborative Research Fund, Jim and Andrea Maginn, and many additional donors through the Unlock the Cure campaign.