TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

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dc.contributor.authorKingswood, John C
dc.contributor.authord’Augères, Guillaume B
dc.contributor.authorBelousova, Elena
dc.contributor.authorFerreira, José C
dc.contributor.authorCarter, Tom
dc.contributor.authorCastellana, Ramon
dc.contributor.authorCottin, Vincent
dc.contributor.authorCuratolo, Paolo
dc.contributor.authorDahlin, Maria
dc.contributor.authorde Vries, Petrus J
dc.contributor.authorFeucht, Martha
dc.contributor.authorFladrowski, Carla
dc.contributor.authorGislimberti, Gabriella
dc.contributor.authorHertzberg, Christoph
dc.contributor.authorJozwiak, Sergiusz
dc.contributor.authorLawson, John A
dc.contributor.authorMacaya, Alfons
dc.contributor.authorNabbout, Rima
dc.contributor.authorO’Callaghan, Finbar
dc.contributor.authorBenedik, Mirjana P
dc.contributor.authorQin, Jiong
dc.contributor.authorMarques, Ruben
dc.contributor.authorSander, Valentin
dc.contributor.authorSauter, Matthias
dc.contributor.authorTakahashi, Yukitoshi
dc.contributor.authorTouraine, Renaud
dc.contributor.authorYouroukos, Sotiris
dc.contributor.authorZonnenberg, Bernard
dc.contributor.authorJansen, Anna C
dc.date.accessioned2017-03-24T13:06:54Z
dc.date.available2017-03-24T13:06:54Z
dc.date.issued2017-01-05
dc.date.updated2017-01-05T19:03:22Z
dc.description.abstractBackground: 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.
dc.identifier.apacitationKingswood, J. C., , Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., ... Jansen, A. C. (2017). TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. http://hdl.handle.net/11427/24090en_ZA
dc.identifier.chicagocitationKingswood, John C, , Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, et al "TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients." (2017) http://hdl.handle.net/11427/24090en_ZA
dc.identifier.citationKingswood, J. C., d’Augères, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., ... & Feucht, M. (2017). TuberOus SClerosis registry to increase disease Awareness (TOSCA)–baseline data on 2093 patients. Orphanet Journal of Rare Diseases, 12(1), 2.
dc.identifier.ris TY - Journal Article AU - Kingswood, John C AU - d’Augères, Guillaume B AU - Belousova, Elena AU - Ferreira, José C AU - Carter, Tom AU - Castellana, Ramon AU - Cottin, Vincent AU - Curatolo, Paolo AU - Dahlin, Maria AU - de Vries, Petrus J AU - Feucht, Martha AU - Fladrowski, Carla AU - Gislimberti, Gabriella AU - Hertzberg, Christoph AU - Jozwiak, Sergiusz AU - Lawson, John A AU - Macaya, Alfons AU - Nabbout, Rima AU - O’Callaghan, Finbar AU - Benedik, Mirjana P AU - Qin, Jiong AU - Marques, Ruben AU - Sander, Valentin AU - Sauter, Matthias AU - Takahashi, Yukitoshi AU - Touraine, Renaud AU - Youroukos, Sotiris AU - Zonnenberg, Bernard AU - Jansen, Anna C AB - 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. DA - 2017-01-05 DB - OpenUCT DO - 10.1186/s13023-016-0553-5 DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2017 T1 - TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients TI - TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients UR - http://hdl.handle.net/11427/24090 ER - en_ZA
dc.identifier.urihttp://dx.doi.org/10.1186/s13023-016-0553-5
dc.identifier.urihttp://hdl.handle.net/11427/24090
dc.identifier.vancouvercitationKingswood JC, , Belousova E, Ferreira JC, Carter T, Castellana R, et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. 2017; http://hdl.handle.net/11427/24090.en_ZA
dc.language.isoen
dc.publisherBioMed Central
dc.publisher.departmentDivision of Child and Adolescent Psychiatryen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rights.holderThe Author(s)
dc.subject.otherTuberous sclerosis
dc.subject.otherRegistry
dc.subject.otherEpilepsy
dc.subject.otherSubependymal giant cell astrocytoma
dc.subject.otherAngiomyolipoma
dc.subject.otherTOSCA
dc.titleTuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
dc.typeJournal Article
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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