Severe Chronic Neutropenia International Registry

 描述(由申请人提供)：严重慢性中性粒细胞减少症国际注册中心(SCNIR或注册中心)成立于1994年，目的是研究严重慢性中性粒细胞减少症(SCN)及其粒细胞集落刺激因子治疗的自然病史和临床后果。注册中心的成就包括发现Elane、Haxi、G6PC3和TCIRG1突变是导致严重先天性中性粒细胞减少症的遗传原因，探索新的治疗方法，并改善中性粒细胞减少症患者的护理。简而言之，我们在当前赠款期间的进展包括，现在登记了2000多名患者。ELANE相关性中性粒细胞减少症的基因表型研究，发现G6PC3和TCIRG1突变是SCN的新病因，发现RUNX1突变是SCN发病途径中的关键步骤，成立合作研究小组，讨论导致SCN的各种原因，包括Shwachman-Diamond、Barth和Whim综合征，GSD1b和其他，以及许多教育活动，让医生、患者和公众了解中性粒细胞减少症。在本报告所述期间，我们共发表了158份出版物：57篇论文、32个章节、7篇社论和评论以及62篇摘要。我们还有几篇额外的论文正在不同的审查阶段等待出版。我们在新的赠款期间的具体目标是：1.继续确定慢性中性粒细胞减少症患者的自然病史、治疗反应和临床结果2.支持通过家族史、纵向临床记录、生物库和分子和遗传学研究合作发现慢性中性粒细胞减少症的新原因的研究3.促进发展合作小组，研究罕见的遗传性疾病引起的中性粒细胞减少症：包括Shwachman-Diamond综合征、糖原储存疾病1b、突发奇想综合征、Barth综合征、和免疫缺陷疾病4.合作开展针对严重慢性中性粒细胞减少症的新的靶向治疗的临床试验5.通过开发可上网的材料、定期的科学和临床会议、演讲以及基于电话和网络的交流策略，作为有关中性粒细胞减少症的教育资源

 DESCRIPTION (provided by applicant): The Severe Chronic Neutropenia International Registry (SCNIR or Registry) was established in 1994 to study the natural history and clinical consequences of severe chronic neutropenia (SCN) and its treatment with granulocyte colony-stimulating factor. The Registry's accomplishments include discovery of ELANE, HAXI, G6PC3 and TCIRG1 mutations as genetic causes for severe congenital neutropenia, exploring new therapies and improving care of patients with neutropenia In brief, our progress during the current grant period includes, enrollment now of more than 2000 patients. genotype-phenotype studies of ELANE associated neutropenia, discovery of G6PC3 and TCIRG1 mutations as a novel cause of SCN, discovery of RUNX1 mutations as critical step in the pathway to AML in SCN, creation of cooperative study groups various causes of SCN including Shwachman-Diamond, Barth, and WHIM syndromes, GSD1b and others, many educational activities for physicians, patients and the general public to inform about neutropenia. We have had a total of 158 publications during the current period: 57 papers, 32 book chapters, 7 editorials and commentaries, and 62 abstracts. We also have several additional papers in various stages of review for publication. Our Specific Aims for the new grant period are: 1. To continue to define the natural history, treatment responses and clinical outcomes for patients with chronic neutropenia 2. To support studies to discover new causes for chronic neutropenia though family history, longitudinal clinical records, a biological repository and collaborations for molecular an genetic investigations 3. To foster development of cooperative groups for studies of neutropenia due to rare genetic disorders: including Shwachman-Diamond syndrome, glycogen storage disease 1b, WHIM syndrome, Barth syndrome, and immune deficiency disorders 4. To cooperate in promising clinical trials of novel targeted therapies for severe chronic neutropenia 5. To serve as an educational resource on neutropenia through development of internet-accessible materials, regular scientific and clinical meetings, presentations, and telephone and web based communication strategies