Assessing the Impact of Osteogenesis Imperfecta on Non-Skeletal Systems

评估成骨不全对非骨骼系统的影响

• 批准号: 8316992
• 负责人: Laura Tosi
• 金额: $ 2.5万
• 依托单位: OSTEOGENESIS IMPERFECTA FOUNDATION, INC.
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-04-01 至 2013-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8316992
• 关键词: Address; Adult; Affect; Aging; Aging-Related Process; Area; Bone Matrix; Cardiac; Cardiovascular Diseases; Cardiovascular system; Case Study; Clinic; Clinical; Clinical Research; Collagen; Collagen Type I; Communities; Connective Tissue; Connective Tissue Diseases; Consensus; Data; Defect; Dentition; Disease; Educational workshop; Family; Focus Groups; Foundations; Gastrointestinal Diseases; Genes; Genetic Variation; Grant; Health; Health Status; Hearing; Heart; Individual; Joint Laxity; Knowledge; Life; Link; Literature; Longitudinal Studies; Low Prevalence; Lung; Malignant Neoplasms; Musculoskeletal; Mutate; Natural History; Osteogenesis Imperfecta; Outcome; Paper; Parents; Participant; Patient Care; Patients; Persons; Population; Primary Care Physician; Production; Rare Diseases; Recommendation; Reporting; Research; Research Personnel; Research Priority; Risk; Skeletal system; Specialized Center; Structure; System; Tissues; Tooth structure; Training; Translational Research; United States; Vision; base; body system; bone; experience; gastrointestinal; hearing impairment; improved; meetings; multidisciplinary; symposium

DESCRIPTION (provided by applicant): Osteogenesis imperfecta (OI) is a rare, heterogeneous disease of connective tissue that affects about 30,000 persons in the United States. The disorder is caused by gene defects responsible for the production of Type I collagen, resulting in defective bone matrix and connective tissue. The primary manifestation of OI is bone fragility; however, the disease may affect virtually all organ systems that contain collagen-rich tissues. Thus, individuals with OI may experience impaired dentition, joint laxity, hearing loss, and a wide range of cardiac problems. There are many unanswered questions about the specific effect of mutated collagen on these tissues, with significant implications for patient care. While the literature offers a wide range of case studies on these problems, the low prevalence of the disease, combined with its genetic variation, means that few papers are based on a population that is sufficiently large to give a clear picture of the risk or range of th varied nonskeletal complications of OI. As a result, little or no guidance is available for the primary care physician or the adult who is faced with addressing the implications of OI on major health questions, such as the appropriate treatment of cardiovascular disease, gastrointestinal diseases, and cancers. Absent centers specializing in the disease, mechanisms to gather the data needed for research are too expensive to give clinicians and researchers the evidence on outcomes they need to guide treatment decisions and facilitate training. Participants in the proposed meeting, Assessing the Impact of Osteogenesis Imperfecta on Nonskeletal Systems, will review current knowledge on how the collagen defects associated with OI affect nonskeletal structures, including the cardiovascular, pulmonary, gastrointestinal, and gynecological systems. Attendees will build on the momentum created by the 2010 Scientific Meeting of the Osteogenesis Imperfecta Foundation (OIF), Improving Musculoskeletal Outcomes for Individuals with Osteogenesis Imperfecta, which was supported in part by an R-13 grant, and by focus groups held at the 2010 OIF Biennial Meeting. The proposed 2012 meeting will mark a major step forward in the identification of areas needing research and of promising targets for new treatments. Attendees, who will include leading OI researchers and clinicians (including representatives of the five OI Linked Clinical Research Centers and other OI clinics), will also develop a strategy for sharing knowledge broadly with clinicians, researchers, parents, and adults with OI. PUBLIC HEALTH RELEVANCE: The best known aspect of osteogenesis imperfecta (OI), a rare disorder of connective tissue, is fragile bones ("brittle bones"), but OI may also affect a wide range of other organ systems, including the heart, lungs, hearing, vision, and teeth. To date there has been little research on how to treat the varied complications of OI. Assessing the Impact of Osteogenesis Imperfecta on Nonskeletal Systems will bring together leading OI researchers and clinicians, as well as adults living with OI, to review current knowledge regarding the impact of OI on a wide range of bodily systems during the aging process, identify major information gaps, and make recommendations to expand the OI research agenda.

描述（由申请人提供）：成骨不全症 (OI) 是一种罕见的异质结缔组织疾病，在美国影响约 30,000 人。这种疾病是由负责产生 I 型胶原蛋白的基因缺陷引起的，导致骨基质和结缔组织有缺陷。成骨不全症的主要表现是骨质脆弱；然而，这种疾病几乎可能影响所有含有富含胶原蛋白的组织的器官系统。因此，患有成骨不全症的人可能会出现牙列受损、关节松弛、听力损失和各种心脏问题。关于突变胶原蛋白对这些组织的具体影响，还有许多悬而未决的问题，这对患者护理具有重大影响。虽然文献提供了关于这些问题的广泛案例研究，但该疾病的低患病率及其遗传变异意味着很少有论文基于足够大的人群来清楚地了解成骨不全的各种非骨骼并发症的风险或范围。因此，对于面临成骨不全症对重大健康问题（例如心血管疾病、胃肠道疾病和癌症的适当治疗）影响的初级保健医生或成年人来说，几乎没有或没有任何指导。由于缺乏专门研究该疾病的中心，收集研究所需数据的机制过于昂贵，无法为临床医生和研究人员提供指导治疗决策和促进培训所需的结果证据。拟议会议“评估成骨不全对非骨骼系统的影响”的与会者将回顾有关与成骨不全相关的胶原蛋白缺陷如何影响非骨骼结构（包括心血管、肺、胃肠道和妇科系统）的现有知识。与会者将借由成骨不全基金会 (OIF) 2010 年科学会议“改善成骨不全患者的肌肉骨骼结果”所创造的势头，该会议部分得到了 R-13 拨款以及 2010 年 OIF 双年度会议上举行的焦点小组的支持。拟议的 2012 年会议将标志着在确定需要研究的领域和有希望的新疗法目标方面向前迈出了重要一步。与会者包括领先的成骨不全研究人员和临床医生（包括五个成骨不全相关临床研究中心和其他成骨不全诊所的代表），还将制定一项与临床医生、研究人员、家长和成骨不全患者广泛分享知识的策略。 公众健康相关性：成骨不全症 (OI) 是一种罕见的结缔组织疾病，其最著名的方面是骨骼脆弱（“脆骨”），但 OI 也可能影响广泛的其他器官系统，包括心脏、肺、听力、视力和牙齿。迄今为止，关于如何治疗成骨不全的各种并发症的研究还很少。评估成骨不全对非骨骼系统的影响将汇集领先的成骨不全研究人员和临床医生，以及患有成骨不全的成年人，回顾有关成骨不全在衰老过程中对广泛身体系统影响的现有知识，找出主要的信息差距，并提出扩大成骨不全研究议程的建议。