Economic burden of congenital athymia in the United States for patients receiving supportive care during the first 3 years of life

Abstract

Aims: Congenital athymia is an ultra-rare pediatric condition characterized by the lack of thymus in utero and the naïve T cells critical for infection defense and immune regulation. Patients with congenital athymia receive supportive care to minimize and treat infections, autoimmune phenomena, and autologous graft-versus-host disease (aGVHD) manifestations, but historically, die within the first 3 years of life with supportive care only. We estimated the healthcare resource utilization and economic burden of supportive care over patients' first 3 years of life in the United States. Methods: A medical chart audit by the treating physician was used to collect patient data from birth to age 3 on clinical manifestations associated with congenital athymia (clinical manifestations due to underlying syndromic conditions excluded). Using costs and charges from publicly available sources, the total economic burden of direct medical costs and charges for the first 3 years of life (considered "lifetime" for patients receiving supportive care) and differences in economic burden between patients with higher and lower inpatient hospitalization durations were estimated. Results: All patients (n ¼ 10) experienced frequent infections and aGVHD manifestations; 40% experienced !1 episode of sepsis, and 20% had recurrent sepsis episodes annually. The estimated mean 3year economic burden per patient was US$5,534,121 (2020 US dollars). The annual mean inpatient hospitalization duration was 150.6 days. Inpatient room charges accounted for 79% of the economic burden, reflecting the high costs of specialized care settings required to prevent infection, including isolation. Patients with high inpatient utilization (n ¼ 5; annual mean inpatient hospitalization duration, 289.6 days) had an estimated 3-year economic burden of US$9,926,229. Limitations: The total economic burden may not be adequately represented due to underestimation of some direct costs or overestimation of others. Conclusions: Current treatment of patients with congenital athymia (supportive care) presents a high economic burden to the healthcare system.

Congenital Athymia: Unmet Needs and Practical Guidance

“…8 The associated heavy economic burden has also been estimated within the American health system for children receiving supportive care only in the first 3 years of life. 79 A comparable burden has been reported with many rare diseases in which the nature of their complexity and intense need for supportive health-care measures create both direct and indirect economic burden. 80 Whilst timely curative treatment can reduce the burden of prolonged supportive care directly related to congenital athymia alone, 8,81 many transplanted patients will continue to have complex health-care needs, requiring specialised and co-ordinated health-care service provision even when satisfactory T-cell immunity has been attained.…”

Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine

“…As the number of causative genetic etiologies of SCID increased with NBS, so did our understanding of critical pathways in lymphocyte development, particularly T cells, as congenital athymia diagnoses also benefited from NBS. We and others describe how SCID NBS has helped reveal the true prevalence and socioeconomic burden of congenital athymia, [29][30][31] supporting the eventual FDA approval of thymic implantation. Dinges et al (11) review primary and secondary defects in the thymus, which include natural aging and resultant thymic atrophy.…”