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.

项目总结/摘要 严重慢性中性粒细胞减少症（SCN）是一种免疫缺陷，导致严重的，往往危及生命， 先天性和获得性中性粒细胞减少症患者的感染。尽管有粒细胞集落- 刺激因子治疗，患者仍然处于长期的，通常是终身的，严重感染的风险和额外的 合并症。严重慢性中性粒细胞增多症国际登记处（SCNIR）成立于1994年， 研究SCN的自然史和临床后果及其治疗。基于研究资源 在登记处，SCNIR研究人员发表了255篇期刊文章，41篇评论和书籍章节 关于SCN SCNIR提供了循证临床指导，提高了我们对 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。正在进行 临床医学和诊断学的发展需要对自然史，治疗， 和结果。SCNIR的目标是提供一个平台，利用数据库创新 科学，分子和计算生物学，患者报告的结果，以及 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内外富有成效的合作历史的基础上， NIAID资源，并为其他免疫缺陷和罕见疾病的研究提供了一个模型。我们 具体目标是： 目标1：在波士顿儿童医院将SCNIR数据库转换为混合模型 SCNIR操作到波士顿，具有医生和患者参与的混合数据收集系统; 收集和分析SCN的患者报告结果;并开发自然语言试点项目 用于数据提取和输入的处理。 目的2：生成用于SCN转化研究的临床注释基因组数据集 慢性中性粒细胞减少症的生殖系基因组特征，用于遗传相互作用的研究，以及新的遗传学 研究界提出的SCN的原因;描述SCN的体细胞突变景观;以及 为创新转化研究和临床试验提供资源。 目标3：为教育、征聘和留用提供资源和外联。 SCNIR将让患者、家庭和医疗服务提供者参与进来，提供教育并促进保留 并将分享专业知识，促进与相关患者倡导和研究团体的合作。 这一长期的、富有成效的登记册的继续运作将允许以其他方式不可行的长期 SCN自然史的评估，为临床和科学研究人员提供资源， 并提供最新的教育资源和推广到医疗和病人社区。