Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature
Abstract 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 val...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-06-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-021-01838-w |
| _version_ | 1818907274916134912 |
|---|---|
| author | Johann Philipp Zöllner Janina Grau Felix Rosenow Matthias Sauter Markus Knuf Gerhard Kurlemann Thomas Mayer Christoph Hertzberg Astrid Bertsche Ilka Immisch Karl Martin Klein Susanne Knake Klaus Marquard Sascha Meyer Anna H. Noda Felix von Podewils Hannah Schäfer Charlotte Thiels Laurent M. Willems Bianca Zukunft Susanne Schubert-Bast Adam Strzelczyk |
| author_facet | Johann Philipp Zöllner Janina Grau Felix Rosenow Matthias Sauter Markus Knuf Gerhard Kurlemann Thomas Mayer Christoph Hertzberg Astrid Bertsche Ilka Immisch Karl Martin Klein Susanne Knake Klaus Marquard Sascha Meyer Anna H. Noda Felix von Podewils Hannah Schäfer Charlotte Thiels Laurent M. Willems Bianca Zukunft Susanne Schubert-Bast Adam Strzelczyk |
| author_sort | Johann Philipp Zöllner |
| collection | DOAJ |
| description | Abstract 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 . |
| first_indexed | 2024-12-19T21:52:31Z |
| format | Article |
| id | doaj.art-b879b72ede654f86a67051fc4680d82e |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-19T21:52:31Z |
| publishDate | 2021-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-b879b72ede654f86a67051fc4680d82e2022-12-21T20:04:22ZengBMCOrphanet Journal of Rare Diseases1750-11722021-06-0116111810.1186/s13023-021-01838-wDirect and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literatureJohann Philipp Zöllner0Janina Grau1Felix Rosenow2Matthias Sauter3Markus Knuf4Gerhard Kurlemann5Thomas Mayer6Christoph Hertzberg7Astrid Bertsche8Ilka Immisch9Karl Martin Klein10Susanne Knake11Klaus Marquard12Sascha Meyer13Anna H. Noda14Felix von Podewils15Hannah Schäfer16Charlotte Thiels17Laurent M. Willems18Bianca Zukunft19Susanne Schubert-Bast20Adam Strzelczyk21Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtKlinikum KemptenDepartment of Pediatrics, Helios Dr. Horst Schmidt Clinic WiesbadenSt. Bonifatius HospitalEpilepsy Center KleinwachauDepartment of Neuropediatrics, Vivantes Klinikum NeuköllnDepartment of Neuropediatrics, University Hospital for Children and AdolescentsEpilepsy Center Hessen and Department of Neurology, Philipps-University MarburgEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtEpilepsy Center Hessen and Department of Neurology, Philipps-University MarburgDepartment of Pediatric Neurology, Psychosomatics and Pain Management, Klinikum StuttgartDepartment of Neuropediatrics, Children’s Hospital at University Medical Center HomburgEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtDepartment of Neurology, Epilepsy Center, University Medicine GreifswaldDivision of Nephrology, Medizinische Klinik und Poliklinik IV, Klinikum der LMU München - InnenstadtDepartment of Neuropediatrics and Socialpediatrics, University Hospital of Ruhr University BochumEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtDepartment of Nephrology and Internal Intensive Care, Charité - University Medicine BerlinEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University FrankfurtAbstract 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 .https://doi.org/10.1186/s13023-021-01838-wTSCAngiomyolipomaSeizureEpilepsySubependymal giant cell astrocytomaCosts |
| spellingShingle | Johann Philipp Zöllner Janina Grau Felix Rosenow Matthias Sauter Markus Knuf Gerhard Kurlemann Thomas Mayer Christoph Hertzberg Astrid Bertsche Ilka Immisch Karl Martin Klein Susanne Knake Klaus Marquard Sascha Meyer Anna H. Noda Felix von Podewils Hannah Schäfer Charlotte Thiels Laurent M. Willems Bianca Zukunft Susanne Schubert-Bast Adam Strzelczyk Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature Orphanet Journal of Rare Diseases TSC Angiomyolipoma Seizure Epilepsy Subependymal giant cell astrocytoma Costs |
| title | Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature |
| title_full | Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature |
| title_fullStr | Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature |
| title_full_unstemmed | Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature |
| title_short | Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature |
| title_sort | direct and indirect costs and cost driving factors in adults with tuberous sclerosis complex a multicenter cohort study and a review of the literature |
| topic | TSC Angiomyolipoma Seizure Epilepsy Subependymal giant cell astrocytoma Costs |
| url | https://doi.org/10.1186/s13023-021-01838-w |
| work_keys_str_mv | AT johannphilippzollner directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT janinagrau directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT felixrosenow directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT matthiassauter directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT markusknuf directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT gerhardkurlemann directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT thomasmayer directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT christophhertzberg directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT astridbertsche directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT ilkaimmisch directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT karlmartinklein directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT susanneknake directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT klausmarquard directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT saschameyer directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT annahnoda directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT felixvonpodewils directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT hannahschafer directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT charlottethiels directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT laurentmwillems directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT biancazukunft directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT susanneschubertbast directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature AT adamstrzelczyk directandindirectcostsandcostdrivingfactorsinadultswithtuberoussclerosiscomplexamulticentercohortstudyandareviewoftheliterature |