Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry
FRONTIERS IN NEUROLOGY
Authors: Marques, Ruben; Belousoye, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augeres, Guillaume Beaure; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, John C.; Jansen, Anna C.; Shinohara, Nobuo; LIorie, Shigeo; Kubota, Masaya; Tohyama, Jun; Imai, Katsumi; Kaneda, Mari; Kaneko, Hideo; Uchida, Yasushi; Kirino, Tomoko; Endo, Shoichi; Inoue, Yoshikazu; Uruno, Katsuhisa; Serdaroglu, Ayse; Yapici, Zuhal; Anlar, Banu; Altunbasak, Sakir; Lvova, Olga; Belyaev, Oleg Valeryevich; Agranovich, Oleg; Levitina, Elena Vladislavovna; Maksimova, Yulia Vladimirovna; Karas, Antonina; Jiang, Yuwu; Zou, Liping; Xu, Kaifeng; Zhang, Yushi; Luan, Guoming; Zhang, Yuqin; Wang, Yi; Jin, Meiling; Ye, Dingwei; Liao, Weiping; Zhou, Liemin; Liu, Jie; Liao, Jianxiang; Yan, Bo; Deng, Yanchun; Jiang, Li; Liu, Zhisheng; Huang, Shaoping; Li, Hua; Kim, Kijoong; Chen, Pei-Lung; Lee, Hsiu-Fen; Tsai, Jeng-Dau; Chi, Ching-Shiang; Huang, Chao-Ching; Riney, Australia Kate; Yates, Deborah; Kwan, Patrick; Likasitwattanakul, Surachai; Nabangchang, Charcrin; Chomtho, Lunliya Thampratankul Krisnachai; Katanyuwong, Kamornwan; Sriudomkajorn, Somjit; Wilmshurst, Jo; Segel, Reeval; Gilboa, Tal; Tzadok, Michal; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatzonis, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. M.; Dhooghe, Marc; Verhelst, Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne, Pierre; De Waele, Liesbeth; Leroy, Patricia; Demonceau, Nathalie; Legros, Benjamin; Van Bogaert, Patrick; Ceulemans, Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne De Saint; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan, Jean-Michel; Ville, Dorothee; Roubertie, Agathe; Auvin, Stephane; Berquin, Patrick; Richelme, Christian; Allaire, Catherine; Gueden, Sophie; Tich, Sylvie Nguyen The; Godet, Bertrand; Falco Rojas, Maria Luz Ruiz; Campistol Planas, Jaume; Martinez Bermejo, Antonio; Smeyers Dura, Patricia; Roldan Aparicio, Susana; Martinez Gonzalez, Maria Jesus; Lopez Pison, Javier; Blanco Barca, Manuel Oscar; Lopez Laso, Eduardo; Alonso Luengo, Olga; Aguirre Rodriguez, Francisco Javier; Malaga Dieguez, Ignacio; Camacho Salas, Ana; Marti Carrera, Itxaso; Martinez Salcedo, Eduardo; Yoldi Petri, Maria Eugenia; Cancho Candela, Ramon; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; da Silva Oliveira Monteiro, Jose Paulo; de Oliveira Ferreira Leao, Miguel Jorge Santos; Marceano Ribeiro Luis, Catarina Sofia; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Laberlandt, Edda, I; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Uvebrant, Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahi, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf, Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina
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.
COA
Publication 
Loading ......
