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Article History

Received: 27 September 2024

Accepted: 27 February 2025

First Online: 13 June 2025

Declarations

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: This study was approved by the Human Research Ethics Committee (HREC) at the University of Cape Town, South Africa (HREC reference number: 849/2020), the site of the principal investigator, and at the Vrije Universiteit Brussel, Belgium (BUN: 1432022000037), the site of the co-principal investigator. It was also approved by the Ethical and Independent Review Services for the Natural History Database Study (protocol number 15039-08) in the United States which permitted use of deidentified clinical data for TSC research at the TSC Alliance, and by the BCH Institutional Review Board (IRB, IRB-P00041212). For BCH and CCH sites, BCH agreed to serve as the reviewing IRB for this study and CCH (IRB number 2022-0421) agreed to cede IRB review to the BCH IRB. All TSC Alliance participants, and BCH and CCH participants were asked to provide informed consent before participating in this study. As part of the TANDem project, all participating data collection sites signed a data transfer agreement which ensured secure sharing of pseudonymised data.

: JC receives grant funding from the NIH and the Department of Defense for projects related to TSC and sits on the Scientific Advisory Committee for Marinus Pharmaceuticals in relation to TSC studies. SB receives grant funding from the TSA UK and Baily Thomas Charitable Fund for projects related to TSC. PD receives partial salary support from the NIH for participation in studies related to TSC, as well as from Aucta Pharmaceuticals for a study of topical sirolimus for facial angiofibromas in TSC and Marinus Pharmaceuticals for a study of ganaxolone for TSC‑related epilepsy. CS receives salary support from the TSC Alliance, a non‑profit organization that reports revenue from individual donors and corporations including Aeovian, BridgeBio, Jazz, LivaNova, Longboard, Mallinckrodt, Marinus, Neurelis, Nobelpharma, Noema, UCB, and Upsher-Smith. AvE is on the scientific advisory board and received grant support from Jazz Pharmaceuticals. She is also a member of ERN ITHACA. DAK reports grants from the National Institutes of Health (NINDS) and Food and Drug Administration (FDA) during the conduct of the study as well as research grants from Jazz Pharmaceuticals and personal fees from Longboard Pharmaceuticals, and grants and non‑financial support from TSC Alliance outside the submitted work. MS reports grant support from Novartis, Biogen, Astellas, Aeovian, Bridgebio, and Aucta and has served on Scientific Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar Therapeutics, and Alkermes. ACJ was on the scientific advisory group of the TOSCA international disease registry sponsored by Novartis and Marinus Trust, and has provided consultancy to Jazz Pharmaceuticals and Aeovian. PJdV was a study steering committee member of three phase III trials in TSC sponsored by Novartis, was on the scientific advisory group of the TOSCA international disease registry sponsored by Novartis, and has provided consultancy to Jazz Pharmaceuticals. The remaining authors declared no competing interests.