Zurück zur Übersicht
| Frontiers in neurology. 2019 Oct 25. doi: 10.3389/fneur.2019.01144. pmc: PMC6823684 |
| Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. |
| Marques R1, Belousova E2, Benedik MP3, Carter T4, Cottin V5, Curatolo P6, Dahlin M7, D'Amato L8, Beaure d'Augères G9, de Vries PJ10, Ferreira JC11, Feucht M12, Fladrowski C13, Hertzberg C14, Jozwiak S15, Lawson JA16, Macaya A17, Nabbout R18, O'Callaghan F19, Qin J20, Sander V21, Sauter M22, Shah S23, Takahashi Y24, Touraine R25, Youroukos S26, Zonnenberg B27, Kingswood JC28, Jansen AC29 |
 Author information
|
|
Abstract Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the or 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. |
|
Copyright © 2019 Marques, Belousova, Benedik, Carter, Cottin, Curatolo, Dahlin, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg, Kingswood and Jansen. |
|
KEYWORDS: TOSCA, TSC, management, rare diseases, registry, resource use |
|
Publikations ID: 31708865 Quelle: öffnen |
Author information
Schnellinfo
-- Cancer Care
-- Kliniken und Partner
-- CCC Cancer School
-- Young CCC
-- CCC Tumorboards
-- CCC Forschungscluster
-- CCC Units
-- CCC Platforms
-- SOPs / Leitlinien
-- Kontakt
Featured
