Antioxidant Therapeutic Clinical Trial in Smith-Lemli-Opitz Syndrome

该应用程序描述了一个独特的联盟（甾醇和类异戊二烯疾病）的发展 研究联盟或 STAIR）研究一组受常见生物化学影响的疾病 健康和稀有：脑腱黄瘤病 (CTX)、周期性高免疫球蛋白血症 D 发烧综合征 (HIDS)、C 型尼曼匹克病 (NPC)、谷甾醇血症、干燥奥格伦-拉尔森综合征 (SLS) 和史密斯-莱姆利-奥皮茨综合征 (SLOS)。 STAIR 活动将由以下团队执行 研究人员的选择是基于他们的临床研究优势和资源、悠久的合作历史、 多样化的地理分布，以允许潜在的研究对象、他们的个人最大限度地访问 改善患者健康的动机及其机构支持的承诺 财团。五年内，STAIR 将进行两项主要临床研究（纵向自然历史研究 NPC 和评估抗氧化疗法在 SLOS 中的疗效的治疗试验），以及六项试点研究 涉及 SLS、SLOS、CTX、HIDS 或谷甾醇血症患者的研究。与校内一起 NIH 计划，该联盟将支持甾醇和类异戊二烯领域的全面培训计划 疾病，并与 NIH RDCRN 共享其资源和数据。参与机构包括俄勒冈州 健康与科学大学 (OHSU) 尤尼斯·肯尼迪·施赖弗国家儿童健康与人类研究所 辛辛那提匹兹堡大学医学中心匹兹堡儿童医院的发展 儿童医院医疗中心、内布拉斯加大学医疗中心和曼尼托巴大学 （加拿大）。 OHSU 将成为该联盟的行政所在地。患者支持组织（史密斯 Lemli Opitz/RSH 基金会、捉迷藏基金会、Ara Parseghian 医学研究基金会、 达纳天使研究信托基金、鱼鳞病及相关皮肤类型基金会和 United 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探索有前途的 在甾醇和类异戊二烯疾病的理解、诊断和治疗方面处于领先地位。

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 & 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 & Seek Foundation, Ara Parseghian Medical Research Foundation, Dana's Angels Research Trust, Foundation for Ichthyosis & 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.