TY  - JOUR
A1  - Grau, Janina
A1  - Zöllner, Johann Philipp
A1  - Schubert-Bast, Susanne
A1  - Kurlemann, Gerhard
A1  - Hertzberg, Christoph
A1  - Wiemer-Kruel, Adelheid
A1  - Bast, Thomas
A1  - Bettendorf, Ulrich
A1  - Fiedler, Barbara
A1  - Hahn, Andreas
A1  - Hartmann, Hans
A1  - Hornemann, Frauke
A1  - Immisch, Ilka
A1  - Jacobs, Julia
A1  - Kieslich, Matthias
A1  - Klein, Karl Martin
A1  - Klotz, Kerstin Alexandra
A1  - Kluger, Gerhard
A1  - Knuf, Markus
A1  - Mayer, Thomas
A1  - Marquard, Klaus
A1  - Meyer, Sascha
A1  - Muhle, Hiltrud
A1  - Müller-Schlüter, Karen
A1  - Noda, Anna
A1  - Ruf, Susanne
A1  - Sauter, Matthias
A1  - Schlump, Jan-Ulrich
A1  - Syrbe, Steffen
A1  - Thiels, Charlotte
A1  - Trollmann, Regina
A1  - Wilken, Bernd
A1  - Willems, Laurent Maximilian
A1  - Rosenow, Felix
A1  - Strzelczyk, Adam
T1  - Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
T2  - Orphanet journal of rare diseases
N2  - Background: Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associated with various organ manifestations in TSC patients. Methods: A validated, three-month, retrospective questionnaire was administered to assess the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket, and nursing care-level costs, completed by caregivers of patients with TSC throughout Germany. Results: The caregivers of 184 patients (mean age 9.8 ± 5.3 years, range 0.7–21.8 years) submitted questionnaires. The reported TSC disease manifestations included epilepsy (92%), skin disorders (86%), structural brain disorders (83%), heart and circulatory system disorders (67%), kidney and urinary tract disorders (53%), and psychiatric disorders (51%). Genetic variations in TSC2 were reported in 46% of patients, whereas 14% were reported in TSC1. Mean total direct health care costs were EUR 4949 [95% confidence interval (95% CI) EUR 4088–5863, median EUR 2062] per patient over three months. Medication costs represented the largest direct cost category (54% of total direct costs, mean EUR 2658), with mechanistic target of rapamycin (mTOR) inhibitors representing the largest share (47%, EUR 2309). The cost of anti-seizure drugs (ASDs) accounted for a mean of only EUR 260 (5%). Inpatient costs (21%, EUR 1027) and ancillary therapy costs (8%, EUR 407) were also important direct cost components. The mean nursing care-level costs were EUR 1163 (95% CI EUR 1027–1314, median EUR 1635) over three months. Total indirect costs totaled a mean of EUR 2813 (95% CI EUR 2221–3394, median EUR 215) for mothers and EUR 372 (95% CI EUR 193–586, median EUR 0) for fathers. Multiple regression analyses revealed polytherapy with two or more ASDs and the use of mTOR inhibitors as independent cost-driving factors of total direct costs. Disability and psychiatric disease were independent cost-driving factors for total indirect costs as well as for nursing care-level costs. Conclusions: This study revealed substantial direct (including medication), nursing care-level, and indirect costs associated with TSC over three months, highlighting the spectrum of organ manifestations and their treatment needs in the German healthcare setting.
KW  - mTOR inhibitor
KW  - Everolimus
KW  - Seizure
KW  - Rhabdomyoma
KW  - Epilepsy
KW  - Anti-seizure medication
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63636
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-636366
SN  - 1750-1172
N1  - Open Access funding enabled and organized by Projekt DEAL. This study was supported by a LOEWE Grant from the State of Hessen for the “Center for Personalized Translational Epilepsy Research” (CePTER, https://www.uni-frankfurt.de/67689811), Goethe-University Frankfurt, Frankfurt am Main, Germany.
N1  - The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
VL  - 16.2021
IS  - art. 282
SP  - 1
EP  - 16
PB  - BioMed Central
CY  - London
ER  -