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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorKingswood, John Christopher
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.authorMacaya Ruíz, Alfons
dc.date.accessioned2021-04-29T11:25:24Z
dc.date.available2021-04-29T11:25:24Z
dc.date.issued2017-01-05
dc.identifier.citationKingswood JC, d’Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - Baseline data on 2093 patients. Orphanet J Rare Dis. 2017 Jan 5;12:2.
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/11351/5930
dc.descriptionAngiomyolipoma; Epilepsy; TOSCA
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.language.isoeng
dc.publisherBMC
dc.relation.ispartofseriesOrphanet Journal of Rare Diseases;12
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectEsclerosi tuberosa
dc.subjectRegistres mèdics
dc.subject.meshTuberous Sclerosis
dc.subject.meshDiseases Registries
dc.subject.mesh/epidemiology
dc.titleTuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s13023-016-0553-5
dc.subject.decsesclerosis tuberosa
dc.subject.decsregistros de enfermedades
dc.subject.decs/epidemiología
dc.relation.publishversionhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0553-5
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Kingswood JC] Sussex Kidney Unit, Royal Sussex County Hospital, Eastern Road, Brighton BN2 5BE, UK. [d'Augères GB] Association Sclérose Tubéreuse de Bourneville, Gradignan, France. [Belousova E] Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation. [Ferreira JC] Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, UK. [Castellana R] Novartis Farmacéutica SA, Gran Vía Corts Catalanes, Barcelona, Spain. [Macaya A] Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid28057044
dc.identifier.wos000391812800001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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