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Treatment patterns and use of resources in patients with tuberous sclerosis complex: Insights from the TOSCA registry

Ruben Marques 1, 2 Elena Belousova 3 Mirjana P. Benedik 4 Tom Carter 5 Vincent Cottin 6 Paolo Curatolo 7 Maria Dahlin 8 Lisa d'Amato 1 Guillaume Beaure d'Augères 9 Petrus J. De Vries 10 Jose C. Ferreira 11 Martha Feucht 12 Carla Fladrowski 13 Christoph Hertzberg 14 Sergiusz Jozwiak 15 John A. Lawson 16 Alfons Macaya 17 Rima Nabbout 18, 19 Finbar O'Callaghan 20 Jiong Qin 21 Valentin Sander 22 Matthias Sauter 23 Seema Shah 1 Yukitoshi Takahashi 24 Renaud Touraine 25 Sotiris Youroukos 26 Bernard Zonnenberg 27 John C. Kingswood 28 Anna C. Jansen 29 
Abstract : Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment patterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite current recommendations proposing both treatment options. mTOR inhibitors are also becoming common treatments in rAML and LAM patients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by <15% of the patients, regardless of age. The long-term nature, together with the variability in its clinical manifestations, makes TSC a complex and resource-demanding disease. The present study shows a comprehensive picture of the resource use implications of TSC.
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Soumis le : mercredi 9 mars 2022 - 21:10:17
Dernière modification le : vendredi 5 août 2022 - 11:56:05


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Ruben Marques, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, et al.. Treatment patterns and use of resources in patients with tuberous sclerosis complex: Insights from the TOSCA registry. Frontiers in Neurology, Frontiers, 2019, 10, pp.1144. ⟨10.3389/fneur.2019.01144⟩. ⟨hal-03603519⟩



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