Economic burden, work, and school productivity in individuals with tuberous sclerosis and their families

Abstract

Aims: Tuberous sclerosis complex (TSC) is a multi-organ autosomal-dominant, genetic disorder with incomplete penetrance. The multiple manifestations of TSC and impacts to numerous organ systems represent significant disease, healthcare, and treatment burden. The economic and employment burden of the disease on individuals and their families is poorly understood. This study assessed the cost of illness and work and school productivity burden associated with TSC in a cross-sectional web-survey sample.

Materials and methods: Eligible TSC individuals and caregivers were invited through the Tuberous Sclerosis Alliance advocacy group to complete a web-based survey about illness characteristics, treatment, disease burden, direct and indirect healthcare costs, work and school impairment.

Results: Data from 609 TSC adults or caregiver respondents with no cognitive impairments were analyzed. TSC adults (>18 years of age) had significantly higher direct out-of-pocket costs for ER visits, expenses for medical tests and procedures, alternative treatments, medications and lifetime cost of surgeries compared to TSC pediatric individuals. Both TSC adults and TSC caregivers reported work and school absenteeism and presenteeism; however, adults reported significantly higher absenteeism and presenteeism and overall activity impairment due to TSC, as might be expected, compared to TSC caregivers. TSC adults had significantly higher absenteeism and presenteeism rates compared to adults with moderate-to-severe plaque psoriasis and muscular sclerosis.

Conclusions: TSC results in considerable direct out-of-pocket medical costs and impairment to work productivity, especially for adults. Future studies should include the comparator group and examine direct cost burden in the US using electronic medical records and insurance databases.

Keywords:

• Economic burden
• direct healthcare costs
• work productivity and activity impairment (WPAI)
• tuberous sclerosis complex

JEL CLASSIFICATION CODES::

• I10
• I00
• I11

Transparency

Declaration of funding

Funding for this study was provided by Novartis Oncology.

Declaration of financial/other relationships

AMR and AMS are employed by Evidera, which provides consulting and other research services to pharmaceutical, device, government, and non-government organizations. As Evidera employees, they work with a variety of companies and organizations and are expressly prohibited from receiving any payment or honoraria directly from these organizations for services rendered. ZL and QS are employees of Novartis. DWD receives research support from Eli Lilly. JWW is currently a consultant for Eisai, Lundbeck, NeuroPace, Sun,Supernus and Upsher-Smith; he is part of a speaker's bureau for Lundbeck, Mallinckroft, LivaNova, Eisai, Supernus, Upsher-Smith. He has received research grants from the Shainberg Foundation, Mallinckrodt, LivaNova, Upsher-Smith, GW Pharma, INSYS, Inc, Neuralis, Zogenix and NeuroPace. JAN is employed by the Tuberous Sclerosis Alliance. JME peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Acknowledgments

This work was conducted by Evidera, Bethesda, MD. The authors thank Kelly McDaniel, Katherine Kim, and Zaneta Balantac for their assistance with data collection, Ren Yu for data analysis, and Amara Tiebout for production assistance. They were employed in the Outcomes Research (OR) division of United BioSource Corporation (UBC) at the time of the study. UBC received funding from Novartis Oncology for this study. The UBC OR division has since become a wholly owned subsidiary called Evidera. The authors gratefully acknowledge the support of the Tuberous Sclerosis Alliance and the adults with TSC and caregivers who participated in this survey.