Antioxidant Therapeutic Clinical Trial in Smith-Lemli-Opitz Syndrome

本申请描述了一个独特的协会（甾醇和类异戊二烯疾病）的发展 研究联盟或STAIR）研究一组由共同生物化学结合的疾病， 健康，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）、C型尼曼-匹克病（NPC）、谷甾醇血症、SjOssen-Larsson综合征 (SLS)和Smith-Lemli-Opitz综合征（SLOS）。STAIR活动将由一个团队执行， 研究者选择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，使潜在的研究对象，他们的个人， 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（纵向自然史研究 和一项评估抗氧化治疗在SLOS中疗效的治疗试验），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 该联盟将支持甾醇和类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），尤尼斯肯尼迪施莱佛国家儿童健康和人类研究所 辛辛那提匹兹堡大学医学中心匹兹堡儿童医院 儿童医院医疗中心、内布拉斯加大学医疗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（史密斯 Lemli Opitz/RSH基金会，Hide & Seek基金会，Ara Parseghian医学研究基金会， 达纳天使研究信托基金会，鱼鳞病及相关皮肤类型基金会， 脑白质营养不良基金会）将参加联合会的活动。总之，STAIR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 在甾醇和类异戊二烯疾病的理解、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.