Sterol and Isoprenoid Diseases Consortium

该应用程序描述了一个独特的财团的发展（固醇和类异戊二烯疾病研究联盟或STAIR）研究一组由共同的生物化学，对健康的影响和罕见性所束缚的疾病：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）、C型尼曼-皮克病（NPC）、谷甾醇血症、舍格伦-拉尔森综合征（SLS），Smith-Lemli-Opitz综合征（SLOS）STAIR活动将由一组研究人员进行，他们的临床研究优势和资源，长期的合作历史，多样化的地理分布，以允许潜在研究对象的最大访问，他们改善患者健康的个人动机，以及他们的机构支持联盟的承诺。在五年内，STAIR将进行两项主要的临床研究（一项NPC的纵向自然史研究和一项评估抗氧化治疗对SLOS疗效的治疗试验），以及六项涉及SLS，SLOS，CTX，HIDS或谷甾醇血症患者的试点研究。该联盟将与NIH校内计划一起支持固醇和类异戊二烯疾病领域的全面培训计划，并与NIH RDCRN分享其资源和数据。参与机构包括俄勒冈州健康与科学大学（OHSU）、尤尼斯·肯尼迪·施莱佛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马尼托巴大学（加拿大）。OHSU将成为财团的行政总部。患者支持组织（Smith Lemli Opitz/RSH基金会、Hide and Seek基金会、Ara Parseghian医学研究基金会、Dana's Angels研究信托基金会、鱼鳞病和相关皮肤类型基金会和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，以探索在理解，诊断和治疗固醇和类异戊二烯疾病的有前途的线索。

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.