TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

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dc.contributor.authorKingswood, John C
dc.contributor.authorBruzzi, Paolo
dc.contributor.authorCuratolo, Paolo
dc.contributor.authorde Vries, Petrus J
dc.contributor.authorFladrowski, Carla
dc.contributor.authorHertzberg, Christoph
dc.contributor.authorJansen, Anna C
dc.contributor.authorJozwiak, Sergiusz
dc.contributor.authorNabbout, Rima
dc.contributor.authorSauter, Matthias
dc.contributor.authorTouraine, Renaud
dc.contributor.authorO’Callaghan, Finbar
dc.contributor.authorZonnenberg, Bernard
dc.contributor.authorCrippa, Stefania
dc.contributor.authorComis, Silvia
dc.contributor.authord’Augères, Guillaume B
dc.contributor.authorBelousova, Elena
dc.contributor.authorCarter, Tom
dc.contributor.authorCottin, Vincent
dc.contributor.authorDahlin, Maria
dc.contributor.authorFerreira, José C
dc.contributor.authorMacaya, Alfons
dc.contributor.authorBenedik, Mirjana P
dc.contributor.authorSander, Valentin
dc.contributor.authorYouroukos, Sotirios
dc.contributor.authorCastellana, Ramon
dc.contributor.authorUlker, Bulent
dc.contributor.authorFeucht, Martha
dc.date.accessioned2015-07-30T04:00:37Z
dc.date.available2015-07-30T04:00:37Z
dc.date.issued2014-11-26
dc.date.updated2015-01-15T17:54:40Z
dc.description.abstractAbstract Background Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disease registry could be an effective tool to gain more insights into TSC and thus help in the development of improved management strategies. Methods TuberOus SClerosis registry to increase disease Awareness (TOSCA) is a multicentre, international disease registry to assess manifestations, interventions, and outcomes in patients with TSC. Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals are eligible. Objectives include mapping the course of TSC manifestations and their effects on prognosis, identifying patients with rare symptoms and co-morbidities, recording interventions and their outcomes, contributing to creation of an evidence-base for disease assessment and therapy, informing further research on TSC, and evaluating the quality of life of patients with TSC. The registry includes a ‘core’ section and subsections or ‘petals’. The ‘core’ section is designed to record general information on patients’ background collected at baseline and updated annually. Subsections will be developed over time to record additional data related to specific disease manifestations and will be updated annually. The registry aimed to enrol approximately 2000 patients from about 250 sites in 31 countries. The initial enrolment period was of 24 months. A follow-up observation period of up to 5 years is planned. Results A pre-planned administrative analysis of ‘core’ data from the first 100 patients was performed to evaluate the feasibility of the registry. Results showed a high degree of accuracy of the data collection procedure. Annual interim analyses are scheduled. Results of first interim analysis will be presented subsequent to data availability in 2014. Implications The results of TOSCA will assist in filling the gaps in understanding the natural history of TSC and help in planning better management and surveillance strategies. This large-scale international registry to study TSC could serve as a model to encourage planning of similar registries for other rare diseases.
dc.identifier.apacitationKingswood, J. C., Bruzzi, P., Curatolo, P., de Vries, P. J., Fladrowski, C., Hertzberg, C., ... Feucht, M. (2014). TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. <i>Orphanet Journal of Rare Diseases</i>, http://hdl.handle.net/11427/13610en_ZA
dc.identifier.chicagocitationKingswood, John C, Paolo Bruzzi, Paolo Curatolo, Petrus J de Vries, Carla Fladrowski, Christoph Hertzberg, Anna C Jansen, et al "TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex." <i>Orphanet Journal of Rare Diseases</i> (2014) http://hdl.handle.net/11427/13610en_ZA
dc.identifier.citationKingswood, J. C., Bruzzi, P., Curatolo, P., de Vries, P. J., Fladrowski, C., Hertzberg, C., ... & Feucht, M. (2014). TOSCA-first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. Orphanet journal of rare diseases, 9(1), 1-9.
dc.identifier.ris TY - Journal Article AU - Kingswood, John C AU - Bruzzi, Paolo AU - Curatolo, Paolo AU - de Vries, Petrus J AU - Fladrowski, Carla AU - Hertzberg, Christoph AU - Jansen, Anna C AU - Jozwiak, Sergiusz AU - Nabbout, Rima AU - Sauter, Matthias AU - Touraine, Renaud AU - O’Callaghan, Finbar AU - Zonnenberg, Bernard AU - Crippa, Stefania AU - Comis, Silvia AU - d’Augères, Guillaume B AU - Belousova, Elena AU - Carter, Tom AU - Cottin, Vincent AU - Dahlin, Maria AU - Ferreira, José C AU - Macaya, Alfons AU - Benedik, Mirjana P AU - Sander, Valentin AU - Youroukos, Sotirios AU - Castellana, Ramon AU - Ulker, Bulent AU - Feucht, Martha AB - Abstract Background Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disease registry could be an effective tool to gain more insights into TSC and thus help in the development of improved management strategies. Methods TuberOus SClerosis registry to increase disease Awareness (TOSCA) is a multicentre, international disease registry to assess manifestations, interventions, and outcomes in patients with TSC. Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals are eligible. Objectives include mapping the course of TSC manifestations and their effects on prognosis, identifying patients with rare symptoms and co-morbidities, recording interventions and their outcomes, contributing to creation of an evidence-base for disease assessment and therapy, informing further research on TSC, and evaluating the quality of life of patients with TSC. The registry includes a ‘core’ section and subsections or ‘petals’. The ‘core’ section is designed to record general information on patients’ background collected at baseline and updated annually. Subsections will be developed over time to record additional data related to specific disease manifestations and will be updated annually. The registry aimed to enrol approximately 2000 patients from about 250 sites in 31 countries. The initial enrolment period was of 24 months. A follow-up observation period of up to 5 years is planned. Results A pre-planned administrative analysis of ‘core’ data from the first 100 patients was performed to evaluate the feasibility of the registry. Results showed a high degree of accuracy of the data collection procedure. Annual interim analyses are scheduled. Results of first interim analysis will be presented subsequent to data availability in 2014. Implications The results of TOSCA will assist in filling the gaps in understanding the natural history of TSC and help in planning better management and surveillance strategies. This large-scale international registry to study TSC could serve as a model to encourage planning of similar registries for other rare diseases. DA - 2014-11-26 DB - OpenUCT DO - 10.1186/s13023-014-0182-9 DP - University of Cape Town J1 - Orphanet Journal of Rare Diseases LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 T1 - TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex TI - TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex UR - http://hdl.handle.net/11427/13610 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/13610
dc.identifier.urihttp://dx.doi.org/10.1186/s13023-014-0182-9
dc.identifier.vancouvercitationKingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, et al. TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. Orphanet Journal of Rare Diseases. 2014; http://hdl.handle.net/11427/13610.en_ZA
dc.language.rfc3066en
dc.publisher.departmentDivision of Child and Adolescent Psychiatryen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis is an Open Access article distributed under the terms of the Creative Commons Attribution License*
dc.rights.holderKingswood et al.; licensee BioMed Central Ltd.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0*
dc.sourceOrphanet Journal of Rare Diseasesen_ZA
dc.source.urihttp://www.ojrd.com
dc.subject.otherTuberous sclerosisen_ZA
dc.subject.otherRegistryen_ZA
dc.subject.otherEpilepsyen_ZA
dc.subject.otherSubependymal giant cell astrocytomaen_ZA
dc.subject.otherAngiomyolipomaen_ZA
dc.titleTOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex
dc.typeJournal Articleen_ZA
uct.type.filetype
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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