LONGITUDINAL STUDY OF OSTEOPOROSIS IMPERFECTA

骨质疏松症不全症的纵向研究

• 批准号: 8166736
• 负责人: VERNON R SUTTON
• 金额: $ 0.57万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-12-01 至 2010-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8166736
• 关键词: Baltimore; Caring; Clinical Research; Clinical Trials; Collagen Type I; Commit; Computer Retrieval of Information on Scientific Projects Database; Data Collection; Development; Devices; Disease; Enrollment; Ethnic Origin; Florida; Foundations; Fracture; Funding; Genotype; Grant; Health Sciences; Individual; Institutes; Institution; Investigation; Link; Longitudinal Studies; Maryland; Medical; Medicine; Modeling; Morbidity - disease rate; Multicenter Studies; Natural History; Oregon; Osteogenesis Imperfecta; Osteoporosis; Outcome; Pain; Participant; Patients; Pharmaceutical Preparations; Prevalence; Protocols documentation; Rare Diseases; Research; Research Personnel; Resources; Safety; Severity of illness; Site; Source; Surgical Management; Texas; Therapeutic Intervention; Treatment outcome; United States National Institutes of Health; Universities; bone; cohort; college; improved; mortality; multidisciplinary; novel therapeutics; research study

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility that is most often due to abnormalities in type I collagen. Because of the rarity of this disorder and the pan-ethnicity of the disorder, there is no geographic clustering of individuals with OI and therefore there are no centers that have sufficient numbers of patients with OI to perform adequately powered studies alone. To date, large clinical research studies on the natural history or management of OI have not been performed. The majority of advances in medical care in the last few decades are informed by large, multicenter studies of natural history, drugs or devices for particular disorders. For rare disorders, the multicenter model is critical for obtaining enough information on enough individuals for a study to be valid. Toward this end, the OI Foundation has committed resources to the development of linked clinical research centers. There will be three centers in the first year of funding (Baylor College of Medicine, Houston, Texas; The Kennedy-Kreiger Institute, Baltimore, Maryland and Oregon Health Science University, Portland, Oregon) and a data collection and analysis center (University of South Florida College of Medicine, Tampa, Florida). It is expected that each center will enroll a minimum of 40 patients in the first 12 months of funding. We anticipate that additional centers will be added in subsequent years with around two dozen participant sites at year five of the LCRC initiative. The initial focus will be on performing a natural history study of OI and it is anticipated that from this, focused research questions will be developed to look at outcomes of medical and surgical management, including clinical trials of new therapeutic articles. A longitudinal multidisciplinary investigation of the natural history, morbidity, and mortality in people with osteogenesis imperfecta will improve treatment and outcome of this devastating disorder. The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the natural history, current therapeutic interventions, morbidity, and mortality in people with OI. The research questions are: a.In the longitudinal cohort, what is the prevalence of specific morbid indicators of disease severity, including fractures, pain, and functionality/mobility, as well as case-fatality associated with the various forms of OI? b.What is the relationship between various genotype and disease severity and progression? c.What is the safety and efficacy of currently used and new OI therapies?

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 中心，不一定是研究者的机构。 成骨不全 (OI) 是一种罕见的骨质脆性增加疾病，通常是由于 I 型胶原蛋白异常所致。 由于这种疾病的罕见性和该疾病的泛种族性，成骨不全患者不存在地理聚集，因此没有任何中心拥有足够数量的成骨不全患者来单独进行充分有力的研究。 迄今为止，尚未进行关于成骨不全自然史或治疗的大型临床研究。 过去几十年医疗保健方面的大部分进步都是通过针对特定疾病的自然史、药物或设备的大型多中心研究得出的。 对于罕见疾病，多中心模型对于获得足够多个体的足够信息以使研究有效至关重要。 为此，OI 基金会投入资源来发展相关临床研究中心。 资助第一年将设立三个中心（德克萨斯州休斯顿的贝勒医学院、马里兰州巴尔的摩的肯尼迪-克赖格研究所和俄勒冈州波特兰的俄勒冈健康科学大学）和一个数据收集和分析中心（俄勒冈大学）南佛罗里达医学院，佛罗里达州坦帕）。 预计每个中心在资助的前 12 个月内将至少招募 40 名患者。 我们预计，在 LCRC 计划实施的第五年，将在接下来的几年中增加更多的中心，大约有二十几个参与地点。 最初的重点将是进行成骨不全的自然史研究，预计由此将开发有针对性的研究问题，以观察医疗和手术管理的结果，包括新治疗文章的临床试验。 对成骨不全症患者的自然史、发病率和死亡率进行纵向多学科调查将改善这种破坏性疾病的治疗和结果。 该方案的目的是对 OI 患者的自然史、当前治疗干预措施、发病率和死亡率进行纵向多学科调查。 研究问题是： a.在纵向队列中，疾病严重程度的特定发病指标（包括骨折、疼痛、功能性/活动性以及与各种形式的成骨不全相关的病死率）的患病率是多少？ b.各种基因型与疾病严重程度和进展之间有何关系？ c.当前使用的和新的成骨不全疗法的安全性和有效性如何？