Real-world disease burden and health care resource utilization for patients with Barth syndrome.

BACKGROUND: Barth syndrome (BTHS) is an ultra-rare, X-linked genetic disorder for which there is limited economic data. Because compiling such data that target rare indications is difficult, we assessed real-world data to increase understanding of the cost of BTHS based on disease burden and health care resource utilization (HCRU). METHODS: A search of the published medical literature identified individual case studies and registry data used to assess the burden of disease and potential costs associated with BTHS, including the potential ability of developing treatments to positively impact those costs. In addition, a claims database analysis was conducted to assess HCRU and associated costs in the United States for patients with BTHS. These real-world data were summarized and compared with registry data. RESULTS: The diagnostic journey for patients with BTHS is difficult, with the majority of affected individuals not receiving a diagnosis until after the development of cardiomyopathy or until a family member is diagnosed, even in those who are symptomatic. Of the living individuals known to have BTHS, a high proportion experience heart failure, with >15% requiring heart transplantation. Data extrapolated during the claims database analysis demonstrated that patients with diagnostic codes linked to BTHS are complex, with a high percentage of complications, necessitating a high level of HCRU and associated costs of care in the inpatient setting. Specifically, National Inpatient Sample hospital cost per claim was $32,702 and the Kids' Inpatient Database hospital cost per claim was $62,596. CONCLUSIONS: Health economic evaluations for rare diseases are scarce. With a noteworthy absence of pharmacoeconomic evidence, utilization of combined clinical case report data from the medical literature, along with registry and claims datasets, demonstrate that BTHS is a costly disease associated with high disease burden and excessive HCRU. Forthcoming treatments (e.g. elamipretide) have the potential to reduce the high disease burden/HCRU.