Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

dc.contributor.authorGrau, Janina
dc.contributor.authorZöllner, Johann Philipp
dc.contributor.authorSchubert-Bast, Susanne
dc.contributor.authorKurlemann, Gerhard
dc.contributor.authorHertzberg, Christoph
dc.contributor.authorWiemer-Kruel, Adelheid
dc.contributor.authorBast, Thomas
dc.contributor.authorBertsche, Astrid
dc.contributor.authorBettendorf, Ulrich
dc.contributor.authorFiedler, Barbara
dc.contributor.authorHahn, Andreas
dc.contributor.authorHartmann, Hans
dc.contributor.authorHornemann, Frauke
dc.contributor.authorImmisch, Ilka
dc.contributor.authorJacobs, Julia
dc.contributor.authorKieslich, Matthias
dc.contributor.authorKlei, Karl Martin
dc.contributor.authorKlotz, Kerstin A.
dc.contributor.authorKluger, Gerhard
dc.contributor.authorKnuf, Markus
dc.contributor.authorMayer, Thomas
dc.contributor.authorMarquard, Klaus
dc.contributor.authorMeyer, Sascha
dc.contributor.authorMuhle, Hiltrud
dc.contributor.authorMüller-Schlüter, Karen
dc.contributor.authorNoda, Anna H.
dc.contributor.authorRuf, Susanne
dc.contributor.authorSauter, Matthias
dc.contributor.authorSchlump, Jan-Ulrich
dc.contributor.authorSyrbe, Steffen
dc.contributor.authorThiels, Charlotte
dc.contributor.authorTrollmann, Regina
dc.contributor.authorWilken, Bernd
dc.contributor.authorWillems, Laurent M.
dc.contributor.authorRosenow, Felix
dc.contributor.authorStrzelczyk, Adam
dc.description.abstractBackground 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. Trial registration: DRKS, DRKS00016045. Registered 01 March 2019,
dc.identifier.citationOrphanet Journal of Rare Diseases 16 (2021): 282. <>
dc.subjectmTOR inhibitor
dc.subjectAnti-seizure medication
dc.subject.ddcDDC Classification::6 Technik, Medizin, angewandte Wissenschaften :: 61 Medizin und Gesundheit :: 610 Medizin und Gesundheit
dc.titleDirect and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort studyen
dcterms.publisherFriedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
local.journal.titleOrphanet Journal of Rare Diseases
local.subject.fakultaetMedizinische Fakultät
local.subject.sammlungUniversität Erlangen-Nürnberg / Open Access Artikel ohne Förderung / Open Access Artikel ohne Förderung 2021
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