LONGITUDINAL STUDY OF OSTEOPOROSIS IMPERFECTA

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 成骨不全(OI)是一种罕见的骨脆性增加的疾病，最常见的原因是I型胶原的异常。由于这种疾病的罕见和疾病的泛种族，没有OI患者的地理聚集性，因此没有中心有足够数量的OI患者单独进行足够有力的研究。到目前为止，还没有对OI的自然病史或治疗进行大规模的临床研究。 在过去的几十年里，医疗保健的大多数进步都是通过对自然病史、治疗特定疾病的药物或设备的大型多中心研究而获得的。对于罕见的疾病，多中心模型对于获得足够多的个人信息以使研究有效至关重要。为此，OI基金会承诺投入资源发展相关的临床研究中心。在资助的第一年，将有三个中心(德克萨斯州休斯敦的贝勒医学院；马里兰州巴尔的摩的肯尼迪-克里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(佛罗里达州坦帕的南佛罗里达大学医学院)。预计每个中心在资助的前12个月将至少招收40名患者。我们预计在接下来的几年里将增加更多的中心，在LCRC倡议的第五年大约有24个参与地点。 最初的重点将是进行OI的自然历史研究，预计将在此基础上开发重点研究问题，以查看内科和外科管理的结果，包括新治疗文章的临床试验。 对成骨不全患者的自然病史、发病率和死亡率进行纵向多学科研究将改善这种破坏性疾病的治疗和预后。 该方案的目的是对OI患者的自然病史、当前的治疗干预措施、发病率和死亡率进行纵向多学科调查。 研究问题包括： A.在纵向队列中，疾病严重程度的特定病态指标(包括骨折、疼痛、功能/活动能力)以及与各种形式的OI相关的病死率是多少？B.不同的基因型别与疾病的严重程度和进展有什么关系？C.目前使用的和新的OI疗法的安全性和有效性是什么？

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?