Sterol and Isoprenoid Diseases Consortium

甾醇和类异戊二烯疾病联盟

• 批准号: 7680784
• 负责人: Robert David Steiner
• 金额: $ 89.96万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-29 至 2014-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7680784
• 关键词: Sterol; Isoprenoid; Diseases; Consortium

DESCRIPTION (provided by applicant): This application describes the development of a unique Consortium (the Sterol and Isoprenoid Diseases Research Consortium or STAIR) to study a group of diseases bound by common biochemistry, impact on health, and rarity: Cerebrotendinous Xanthomatosis (CTX), Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS), Niemann-Pick Disease Type C (NPC), Sitosterolemia, Sjogren-Larsson Syndrome (SLS), and Smith-Lemli-Opitz Syndrome (SLOS). STAIR activities will be performed by a team of investigators chosen for their clinical research strengths and resources, a long history of collaboration, a diverse geographic distribution to allow maximal access by potential research subjects, their individual motivation to improve the health of patients, and the commitment of their institution to support the Consortium. In five years, STAIR will conduct two major clinical studies (a longitudinal natural history study of NPC and a therapeutic trial to evaluate the efficacy of antioxidant therapy in SLOS), and six pilot research studies involving patients with either SLS, SLOS, CTX, HIDS or Sitosterolemia. Together with the Intramural NIH program, the Consortium will support a full-scale training program in the field of sterol and isoprenoid diseases and share its resources and data with the NIH RDCRN. Participating institutions include Oregon Health and Science University (OHSU), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Cincinnati Children's Hospital Medical Center, University of Nebraska Medical Center, and University of Manitoba (Canada). OHSU will be the administrative home of the Consortium. Patient support organizations (Smith Lemli Opitz/RSH Foundation, Hide and Seek Foundation, Ara Parseghian Medical Research Foundation, Dana's Angels Research Trust, Foundation for Ichthyosis and Related Skin Types, and United Leukodystrophy Foundation) will participate in Consortium activities. In summary, STAIR will foster multidisciplinary clinical research, promote training and education and support projects to explore promising leads in the understanding, diagnostics, and treatment of sterol and isoprenoid diseases. PUBLIC HEALTH RELEVANCE: As proven with familial hypercholesterolemia, research into these rare disorders will undoubtedly offer invaluable insights into common disorders and lead to improved treatments.

描述（由申请人提供）：本申请描述了一个独特的联盟（甾醇和类异戊二烯疾病研究联盟或 STAIR）的开发，以研究一组受常见生物化学、对健康影响和稀有性影响的疾病：脑腱黄瘤病 (CTX) 、高免疫球蛋白血症 D 伴周期性发热综合征 (HIDS)、尼曼-匹克病 C 型 (NPC)、谷甾醇血症、干燥-拉尔森综合征 (SLS) 和史密斯-莱姆利-奥皮茨综合征 (SLOS)。 STAIR 活动将由一组根据其临床研究优势和资源、悠久的合作历史、多样化的地理分布以允许潜在研究对象最大程度地参与、改善患者健康的个人动机以及他们的机构承诺支持该联盟。五年内，STAIR 将开展两项主要临床研究（一项 NPC 纵向自然史研究和一项评估抗氧化疗法对 SLOS 疗效的治疗试验），以及六项涉及 SLS、SLOS、CTX、HIDS 患者的试点研究或谷甾醇血症。该联盟将与 NIH 校内项目一起支持甾醇和类异戊二烯疾病领域的全面培训项目，并与 NIH RDCRN 共享其资源和数据。参与机构包括俄勒冈健康与科学大学（OHSU）、尤尼斯·肯尼迪·施赖弗国家儿童健康与人类发展研究所、匹兹堡大学医学中心匹兹堡儿童医院、辛辛那提儿童医院医学中心、内布拉斯加大学医学中心和大学马尼托巴省（加拿大）。 OHSU 将成为该联盟的行政所在地。患者支持组织（Smith Lemli Opitz/RSH 基金会、捉迷藏基金会、Ara Parseghian 医学研究基金会、Dana's Angels Research Trust、鱼鳞病和相关皮肤类型基金会以及联合脑白质营养不良基金会）将参加联盟活动。总之，STAIR 将促进多学科临床研究，促进培训和教育并支持项目，以探索甾醇和类异戊二烯疾病的理解、诊断和治疗方面的有前景的线索。公共健康相关性：正如家族性高胆固醇血症所证明的那样，对这些罕见疾病的研究无疑将为常见疾病提供宝贵的见解，并改进治疗方法。