eprintid: 1537565 rev_number: 30 eprint_status: archive userid: 608 dir: disk0/01/53/75/65 datestamp: 2017-01-31 16:00:06 lastmod: 2021-12-13 23:47:39 status_changed: 2017-02-28 14:44:56 type: article metadata_visibility: show creators_name: Kingswood, JC creators_name: d'Augères, GB creators_name: Belousova, E creators_name: Ferreira, JC creators_name: Carter, T creators_name: Castellana, R creators_name: Cottin, V creators_name: Curatolo, P creators_name: Dahlin, M creators_name: de Vries, PJ creators_name: Feucht, M creators_name: Fladrowski, C creators_name: Gislimberti, G creators_name: Hertzberg, C creators_name: Jozwiak, S creators_name: Lawson, JA creators_name: Macaya, A creators_name: Nabbout, R creators_name: O'Callaghan, F creators_name: Benedik, MP creators_name: Qin, J creators_name: Marques, R creators_name: Sander, V creators_name: Sauter, M creators_name: Takahashi, Y creators_name: Touraine, R creators_name: Youroukos, S creators_name: Zonnenberg, B creators_name: Jansen, AC creators_name: TOSCA consortium and TOSCA investigators, . title: TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients ispublished: pub divisions: UCL divisions: B02 divisions: D13 divisions: G26 keywords: Angiomyolipoma, Epilepsy, Registry, Subependymal giant cell astrocytoma, TOSCA, Tuberous sclerosis note: Copyright © The Author(s) 2017. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. abstract: BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a "core" section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. "Subsections" of the registry recorded additional data related to specific features of TSC. RESULTS: Baseline "core" data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0-71) and at diagnosis of TSC was 1 year (range, 0-69). The occurrence rates of major manifestations of TSC included - cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), ≥ 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at ≤ 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients. CONCLUSION: TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC. date: 2017-01-05 date_type: published official_url: http://dx.doi.org/10.1186/s13023-016-0553-5 oa_status: green full_text_type: pub pmcid: PMC5217262 language: eng primo: open primo_central: open_green article_type_text: Journal article verified: verified_manual elements_id: 1201361 doi: 10.1186/s13023-016-0553-5 pii: 10.1186/s13023-016-0553-5 lyricists_name: O'Callaghan, Finbar lyricists_id: FOCAL96 actors_name: Bracey, Alan actors_id: ABBRA90 actors_role: owner full_text_status: public publication: Orphanet Journal of Rare Diseases volume: 12 article_number: 2 event_location: England issn: 1750-1172 citation: Kingswood, JC; d'Augères, GB; Belousova, E; Ferreira, JC; Carter, T; Castellana, R; Cottin, V; ... TOSCA consortium and TOSCA investigators, .; + view all <#> Kingswood, JC; d'Augères, GB; Belousova, E; Ferreira, JC; Carter, T; Castellana, R; Cottin, V; Curatolo, P; Dahlin, M; de Vries, PJ; Feucht, M; Fladrowski, C; Gislimberti, G; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Nabbout, R; O'Callaghan, F; Benedik, MP; Qin, J; Marques, R; Sander, V; Sauter, M; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; TOSCA consortium and TOSCA investigators, .; - view fewer <#> (2017) TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet Journal of Rare Diseases , 12 , Article 2. 10.1186/s13023-016-0553-5 <https://doi.org/10.1186/s13023-016-0553-5>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/1537565/1/art%253A10.1186%252Fs13023-016-0553-5.pdf