OBJECTIVES: Bardet-Biedl Syndrome (BBS) is a rare genetic disease, characterized by obesity, hyperphagia, retinal degeneration and kidney dysfunction. Given its early age of onset and progressive nature, BBS has substantial impacts on patients and their families; however, the economic burden of this illness is under characterized. To address this gap, a prevalence-based economic model was developed to quantify the burden to patients, caregivers, and society in the United States (US).

METHODS: A conceptual framework was developed to synthesize areas of societal burden associated with BBS, including direct and out-of-pocket medical costs, caregiving costs, food expenses, early mortality, patient work loss, caregiver productivity, and quality of life. Where possible, cost inputs were identified through a targeted literature review. Direct costs were calibrated using published literature from other relevant diseases and government data. Indirect costs were estimated using a human capital approach, incorporating the value of quality-adjusted life years lost. Excess costs of BBS were reported in 2020 USD, annually and over the lifetime. Future costs were discounted at an annual rate of 3%.

RESULTS: The lifetime excess societal burden of BBS is estimated at $5.2M per patient (pp), totaling $2.9B based on a prevalent cohort of patients with BBS in the US with an average age of 27. The largest drivers of burden were reduced patient quality of life at $2.8M pp (or $1.5B), followed by caregiver productivity loss at $1.3M pp (or $694M) and reduced caregiver quality of life at $1.1M pp (or $597M). Caregiver productivity loss was equivalent to 58% of the mean annual income for a US worker. Specifically, costs attributed to hyperphagia and obesity comprised over 50% of the burden.

CONCLUSIONS: BBS is associated with significant economic and quality-of-life burden for patients, caregivers, and society. Further real-world epidemiological research is needed to build upon these findings.