Sterol and Isoprenoid Diseases Consortium

甾醇和类异戊二烯疾病联盟

• 批准号: 8151621
• 负责人: Robert David Steiner
• 金额: $ 13万
• 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/8151621
• 关键词: Academic Medical Centers; Binding; Biochemistry; Canada; Cerebrotendinous Xanthomatosis; Clinical Research; Collaborations; Data; Development; Diagnostic; Disease; Familial Hypercholesterolemia; Fever; Fostering; Foundations; Geographic Distribution; Health; Health Sciences; Home environment; Hyperimmunoglobulinemia D; Ichthyoses; Individual; Institution; Lead; Manitoba; Medical Research; Medical center; Motivation; National Institute of Child Health and Human Development; Natural History; Nebraska; Oregon; Patients; Pediatric Hospitals; Rare Diseases; Recording of previous events; Research; Research Personnel; Research Subjects; Resources; Sjogren-Larsson Syndrome; Skin; Smith-Lemli-Opitz Syndrome; Sterols; Supraoptic Vertical Ophthalmoplegia; Syndrome; Therapy Clinical Trials; Training Programs; Training and Education; Trust; United States National Institutes of Health; Universities; antioxidant therapy; improved; insight; isoprenoid; leukodystrophy; multidisciplinary; programs; research study

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.

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),静脉血症，Sjogren-Larsson综合征（SLS）和Smith-Lemli-Opitz综合征（SLO）。楼梯活动将由一个调查人员团队进行，以供临床研究优势和资源，悠久的协作历史，多样化的地理分布，以允许潜在的研究对象的最大机会，他们的个人动机改善患者的健康以及其机构的承诺支持该联盟。在五年内，楼梯将进行两项主要的临床研究（NPC的纵向自然史研究和一项治疗试验，以评估抗氧化剂治疗在SLOS中的疗效），以及六项涉及SLS，SLS，SLOS，CTX，HIDS，HIDS或Sitosterolemia患者的初步研究研究。该财团将与壁内NIH计划一起支持固醇和类异丙型疾病领域的全尺度培训计划，并与NIH RDCRN共享其资源和数据。参加机构包括俄勒冈州健康与科学大学（OHSU），Eunice Kennedy Shriver国家儿童健康与人类发展研究所，匹兹堡大学医学中心的匹兹堡儿童医院，辛辛那提儿童医院医学中心，内布拉斯加州大学医学中心和Manitoba大学（加拿大）。 OHSU将成为该财团的行政故乡。患者支持组织（Smith Lemli Opitz/RSH基金会，Hide and Seew Foundation，Ara Parseghian医学研究基金会，Dana's Angels Research Trust，Ichthyisois和相关皮肤类型的基金会以及联合白血病症基金会）将参加联盟活动。总而言之，楼梯将培养多学科的临床研究，促进培训和教育和支持项目，以探索对固醇和类固醇疾病的理解，诊断和治疗方面的有希望的潜在客户。