University of Pittsburgh Clinical and Translational Science Institute

摘要 由SARS-CoV-2病毒引起的大流行继续影响公共卫生和个人健康， 家庭和社区。那些患有罕见疾病的人可能会受到不成比例的影响，因为他们可能 有高风险暴露于SARS-CoV-2从他们的照顾者，住房情况，并需要参加- 个人医疗预约他们也可能特别容易受到感染并发症， 它们的潜在疾病状况、免疫抑制疗法、遗传易感性和/或其他因素。 罕见疾病患者的感染范围尚不清楚。本提案将调查 在患有罕见疾病的无症状个体中对SARS-CoV-2的血清免疫率。 具体来说，这项研究将确定可检测到的SARS-CoV-2抗体的流行率（目的1）， 调查与整个生命过程中的健康结果相关的免疫属性（目标2）， 美国各地的无症状患者患有>280种罕见疾病之一。预期结果将 在罕见疾病的背景下，为COVID-19大流行的严重程度提供重要见解，并将 有助于确定疫苗的潜在靶点。

ABSTRACT The pandemic caused by the SARS-CoV-2 virus continues to impact public health and the health of individuals, families, and communities. Those with a rare disease may be disproportionately affected because they may have a high risk of exposure to SARS-CoV-2 from their caregivers, housing situations, and need to attend in- person medical appointments. They may also be particularly vulnerable to complications from infection due to their underlying disease condition, immunosuppressive therapies, genetic susceptibility, and/or other factors. The scope of infection among those with rare diseases is unknown. The present proposal will investigate the sero-prevalence of immunity against SARS-CoV-2 among asymptomatic individuals with rare diseases. Specifically, this study will determine the prevalence of detectable antibodies to SARS-CoV-2 (Aim 1) and investigate the immune attributes associated with health outcomes across the life course (Aim 2) among asymptomatic individuals across the United States with one of >280 rare diseases. The anticipated results will provide crucial insights into the magnitude of the COVID-19 pandemic in the context of rare disease and will contribute to the identification of potential targets for a vaccine.