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登记研究（SCNIR或登记研究）成立于1994年，旨在研究严重慢性中性粒细胞减少症（SCN）的自然史和临床后果及其粒细胞集落刺激因子治疗。登记处的成就包括发现ELANE、HAXI、G6 PC 3和TCIRG 1突变作为严重先天性中性粒细胞减少症的遗传原因，探索新的治疗方法和改善中性粒细胞减少症患者的护理。简而言之，我们在当前资助期间的进展包括，现在招募了2000多名患者。ELANE相关中性粒细胞减少症的基因型-表型研究，发现G6 PC 3和TCIRG 1突变是SCN的一种新病因，发现RUNX 1突变是SCN中AML途径的关键步骤，创建SCN的各种病因（包括Shwachman-Diamond综合征、Barth综合征和WHIM综合征、GSD 1b等）的合作研究小组，为医生、患者和公众提供有关中性粒细胞减少症的许多教育活动。在本报告所述期间，我们共发表了158份出版物：57份论文、32本书的章节、7篇社论和评论以及62份摘要。我们还有几篇处于不同审查阶段的论文要发表。我们在新的资助期内的具体目标是：1。继续明确慢性中性粒细胞减少症患者的自然史、治疗反应和临床结局2。支持通过家族史、纵向临床记录、生物学知识库和分子遗传学研究合作来发现慢性中性粒细胞减少症的新原因的研究3。促进罕见遗传性疾病导致的中性粒细胞减少症研究合作小组的发展：包括Shwachman-Diamond综合征，糖原累积病1b，WHIM综合征，Barth综合征和免疫缺陷病4。合作开展新型靶向疗法治疗慢性严重中性粒细胞减少症的临床试验。通过开发互联网可访问的材料、定期的科学和临床会议、演示以及基于电话和网络的沟通策略，作为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