Antioxidant Therapeutic Clinical Trial in Smith-Lemli-Opitz Syndrome

本申请描述了一种独特的联合体(斯特罗和异戊二烯类疾病)的发展 研究联盟或阶梯)，以研究一组受共同生物化学约束的疾病，对 健康和罕见：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)、Niemann-Pick病C型(NPC)、Sitosterol血症、Sjogren-Larsson综合征 (SLS)和Smith-Lemli-Opitz综合征(SLOS)。楼梯活动将由一队 选择研究人员是因为他们的临床研究优势和资源，长期的合作历史， 不同的地理分布，允许潜在研究对象及其个人最大限度地访问 改善患者健康的动机，以及他们的机构支持 财团。在五年内，STAIR将进行两项主要的临床研究(纵向自然病史研究 和一项评估抗氧化剂治疗SLOS疗效的治疗试验)，以及六项先导性研究 涉及SLS、SLOS、CTX、HIDs或Sitosterol血症患者的研究。与壁画一起 NIH计划，该联盟将支持在类固醇和异戊二烯领域的全面培训计划 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·施莱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发展 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将成为该财团的行政总部。患者支持组织(Smith Lemli Opitz/RSH基金会，躲猫猫基金会，Ara ParSeghian医学研究基金会， 达纳的天使研究信托基金、鱼鳞病及相关皮肤类型基金会和联合 脑白质营养不良基金会)将参与联盟的活动。总而言之，楼梯将促进 多学科临床研究，促进培训和教育，支持项目探索有前途的 在类固醇和异戊二烯类疾病的理解、诊断和治疗方面具有领先地位。

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.