Severe Chronic Neutropenia International Registry

严重慢性中性粒细胞减少症国际登记处

• 批准号: 10410150
• 负责人: PETER E NEWBURGER
• 金额: $ 134.51万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-08-25 至 2027-07-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10410150
• 关键词: Abbreviations; Address; Adult; Advocacy; Age; Bacterial Infections; Basic Science; Bibliography; Biocompatible Materials; Bioinformatics; Biology; Biometry; Book Chapters; Boston; CRISPR/Cas technology; Caring; Case Study; Childhood; Chronic; Clinical; Clinical Data; Clinical Medicine; Clinical Research; Clinical Trials; Clonal Evolution; Collaborations; Colony-Stimulating Factor Therapy; Communication; Communities; Computational Biology; Data; Data Aggregation; Data Collection; Data Set; Databases; Development; Diagnosis; Disease; Education; Education and Outreach; Evolution; Family; Feedback; Fostering; Genetic; Genetic study; Genomics; Geography; Granulocyte Colony-Stimulating Factor; Host Defense; Hybrids; Immunologic Deficiency Syndromes; Individual; Infection; Information Technology; Infrastructure; Innate Immune System; International; Leukocytes; Life; Link; Mediating; Medical; Medical Genetics; Modeling; Modernization; Molecular; Molecular Biology; National Institute of Allergy and Infectious Disease; Natural History; Natural Language Processing; Neutropenia; Newsletter; Pathogenesis; Patient Care; Patient Education; Patient Outcomes Assessments; Patient advocacy; Patient-Focused Outcomes; Patients; Pediatric Hospitals; Physicians; Pilot Projects; Provider; Published Comment; Publishing; Rare Diseases; Recording of previous events; Registries; Research; Research Personnel; Resources; Risk; Science; Somatic Mutation; Study models; Support Groups; Syndrome; System; Translational Research; Treatment outcome; Update; WHIM syndrome; Work; arm; base; clinical care; clinical diagnostics; clinical phenotype; cohort; comorbidity; computerized data processing; data exchange; data integrity; diagnostic tool; disease registry; editorial; education resources; elastase inhibitor; evidence base; experience; family support; gene discovery; genomic data; innovation; journal article; knockout gene; meetings; neutrophil; novel; operation; outreach; patient oriented; rare condition; recruit; response; risk stratification; social media; technology development; translational approach

Project Summary / Abstract Severe chronic neutropenia (SCN) is an immunodeficiency that leads to severe, often life-threatening, infections in patients with both congenital and acquired forms of neutropenia. Despite granulocyte colony- stimulating factor therapy, patients remain at long term, often life-long, risk of serious infections and additional comorbidities. The Severe Chronic Neutropenia International Registry (SCNIR) was established in 1994 to study the natural history and clinical consequences of SCN and its treatment. Based on the research resources of the Registry, SCNIR investigators have published 255 journal articles, and 41 reviews and book chapters related to SCN. The SCNIR has provided evidence-based clinical guidance, advanced our understanding of neutrophil biology, and broadly informed the care of neutropenia and immunodeficiencies. Scientific technology developments have opened new opportunities to investigate SCN biology. Ongoing evolution of clinical medicine and diagnostics requires continued reassessment of natural history, treatments, and outcomes. The objective of the SCNIR is to provide a platform to leverage innovations in database science, molecular and computational biology, patient-reported outcomes, and other advances in basic and clinical research to enable discovery of new treatments and inform medical management. This project builds on the history of productive collaborations within and outside the SCNIR to expand available NIAID resources and provide a model for the study of other immunodeficiencies and rare diseases. Our SPECIFIC AIMS are: Aim 1: Transition the SCNIR database to a hybrid model at Boston Children’s Hospital We will transition SCNIR operations to Boston, with a hybrid data collection system engaging both physicians and patients; collect and analyze patient-reported outcomes for SCN; and develop a pilot project in natural language processing for data extraction and entry. Aim 2: Generate clinically annotated genomic datasets for translational research in SCN We will characterize the germline genomic features of chronic neutropenia for the study of genetic interactions, and novel genetic causes of SCN by the research community; characterize the somatic mutational landscape of SCN; and provide resources for innovative translational research and clinical trials. Aim 3: Provide resources and outreach for education, recruitment, and retention. The SCNIR will engage patients, families, and medical providers to provide education and promote retention and will share expertise and foster collaborations with related patient advocacy and research groups. Continued operation of this longstanding, productive registry will permit otherwise unfeasible long-term assessments of SCN natural history, generate resources for both clinical and scientific research investigators, and provide up-to-date educational resources and outreach to medical and patient communities.

项目概要/摘要 严重慢性中性粒细胞减少症 (SCN) 是一种免疫缺陷，可导致严重的、常常危及生命的、 先天性和获得性中性粒细胞减少症患者的感染。尽管粒细胞集落 刺激因子治疗，患者长期（通常是终生）仍面临严重感染和额外风险 合并症。严重慢性中性粒细胞减少症国际登记处 (SCNIR) 成立于 1994 年，旨在 研究 SCN 的自然史和临床后果及其治疗。基于研究资源 SCNIR 的研究人员已发表 255 篇期刊文章以及 41 篇评论和书籍章节 与SCN有关。 SCNIR 提供了基于证据的临床指导，增进了我们对以下疾病的理解： 中性粒细胞生物学，并广泛告知中性粒细胞减少症和免疫缺陷的护理。 科学技术的发展为研究 SCN 生物学提供了新的机会。进行中 临床医学和诊断学的发展需要不断重新评估自然史、治疗方法、 和结果。 SCNIR 的目标是提供一个利用数据库创新的平台 科学、分子和计算生物学、患者报告的结果以及其他领域的进展 基础和临床研究，以发现新的治疗方法并为医疗管理提供信息。 该项目建立在 SCNIR 内部和外部富有成效的合作历史的基础上，以扩展可用的 NIAID 资源并为其他免疫缺陷和罕见疾病的研究提供了模型。我们的 具体目标是： 目标 1：将波士顿儿童医院的 SCNIR 数据库转变为混合模型 我们将转变 SCNIR 在波士顿开展业务，采用混合数据收集系统，让医生和患者参与其中； 收集并分析患者报告的 SCN 结果；并开发一个自然语言试点项目 数据提取和输入的处理。 目标 2：生成用于 SCN 转化研究的临床注释基因组数据集 我们将描述 慢性中性粒细胞减少症的种系基因组特征，用于研究遗传相互作用和新的遗传 研究界对 SCN 的成因；描述 SCN 体细胞突变景观的特征；和 为创新转化研究和临床试验提供资源。 目标 3：为教育、招聘和保留提供资源和推广。 SCNIR 将让患者、家庭和医疗服务提供者参与提供教育并促进保留 并将分享专业知识并促进与相关患者倡导和研究团体的合作。 这一长期有效的登记机构的持续运作将允许实现原本不可行的长期目标 评估 SCN 自然史，为临床和科学研究人员提供资源， 并向医疗和患者社区提供最新的教育资源和外展活动。