TY  - JOUR
A1  - Zöllner, Johann Philipp
A1  - Grau, Janina
A1  - Rosenow, Felix
A1  - Sauter, Matthias
A1  - Knuf, Markus
A1  - Kurlemann, Gerhard
A1  - Mayer, Thomas
A1  - Hertzberg, Christoph
A1  - Bertsche, Astrid
A1  - Immisch, Ilka
A1  - Klein, Karl Martin
A1  - Knake, Susanne
A1  - Marquard, Klaus
A1  - Meyer, Sascha
A1  - Noda, Anna
A1  - Podewils, Felix von
A1  - Schäfer, Hannah
A1  - Thiels, Charlotte
A1  - Willems, Laurent Maximilian
A1  - Zukunft, Bianca
A1  - Schubert-Bast, Susanne
A1  - Strzelczyk, Adam
T1  - Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature
T2  - Orphanet journal of rare diseases
N2  - Background: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers associated with organ manifestations in adults with TSC.
Methods: A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket (OOP), and nursing care-level costs among adult individuals with TSC throughout Germany from a societal perspective (costing year: 2019).
Results: We enrolled 192 adults with TSC (mean age: 33.4 ± 12.7 years; range: 18–78 years, 51.6% [n = 99] women). Reported TSC disease manifestations included skin (94.8%) and kidney and urinary tract (74%) disorders, epilepsy (72.9%), structural brain defects (67.2%), psychiatric disorders (50.5%), heart and circulatory system disorders (50.5%), and lymphangioleiomyomatosis (11.5%). TSC1 and TSC2 mutations were reported in 16.7% and 25% of respondents, respectively. Mean direct health care costs totaled EUR 6452 (median EUR 1920; 95% confidence interval [CI] EUR 5533–7422) per patient over three months. Medication costs represented the major direct cost category (77% of total direct costs; mean EUR 4953), and mechanistic target of rapamycin (mTOR) inhibitors represented the largest share (68%, EUR 4358). Mean antiseizure drug (ASD) costs were only EUR 415 (6%). Inpatient costs (8%, EUR 518) and outpatient treatment costs (7%; EUR 467) were important further direct cost components. The mean care grade allowance as an approximator of informal nursing care costs was EUR 929 (median EUR 0; 95% CI EUR 780–1083) over three months. Mean indirect costs totaled EUR 3174 (median EUR 0; 95% CI EUR 2503–3840) among working-age individuals (< 67 years in Germany). Multiple regression analyses revealed mTOR inhibitor use and persistent seizures as independent cost-driving factors for total direct costs. Older age and disability were independent cost-driving factors for total indirect costs, whereas epilepsy, psychiatric disease, and disability were independent cost-driving factors for nursing care costs.
Conclusions: This three-month study revealed substantial direct healthcare, indirect healthcare, and medication costs associated with TSC in Germany. This study highlights the spectrum of organ manifestations and their associated treatment needs in the German healthcare setting. Trial registration: DRKS, DRKS00016045. Registered 01 March 2019, http://www.drks.de/DRKS00016045.
KW  - TSC
KW  - Angiomyolipoma
KW  - Seizure
KW  - Epilepsy
KW  - Subependymal giant cell astrocytoma
KW  - Costs
KW  - Sociodemographic characteristics
KW  - Genetics
KW  - Anticonvulsant
KW  - MTOR inhibitor
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/71007
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-710071
SN  - 1750-1172
N1  - Open Access funding enabled and organized by Projekt DEAL. This study was supported by the State of Hessen with a LOEWE-Grant to the CePTER Consortium (https://www.uni-frankfurt.de/67689811).
VL  - 16
IS  - art. 250
SP  - 1
EP  - 18
PB  - BioMed Central
CY  - London
ER  -