Antioxidant Therapeutic Clinical Trial in Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz 综合征的抗氧化剂治疗临床试验

基本信息

批准号：
8332317
负责人：
Robert David Steiner
金额：
$ 53.63万
依托单位：
OREGON HEALTH & SCIENCE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-08-01 至 2014-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8332317
关键词：
7-dehydrocholesterol 7-dehydrocholesterol reductase Academic Medical Centers Affect Animal Model Antioxidants Autistic Disorder Binding Biochemical Biochemistry Brain Canada Cells Cerebrotendinous Xanthomatosis Child Child health care Cholesterol Cholesterol Homeostasis Clinical Clinical Research Collaborations Complement Data Development Diagnostic Diet Dietary Cholesterol Disease Dolichol Enzymes Evaluation Excretory function Exhibits Familial Hypercholesterolemia Fever Fostering Foundations Geographic Distribution Goals Health Health Sciences Hearing Home environment Human Development Hydroxycholesterols Hyperimmunoglobulinemia D Ichthyoses In Vitro Individual Infusion procedures Institutes Institution Lead Light Manitoba Measures Medical Research Medical center Mental Retardation Methods Mevalonic Acid Molecular Motivation Mutation Natural History Nature Nebraska Nuclear Pore Complex Oregon Outcome Oxidative Stress Pathogenesis Pathway interactions Patient Recruitments Patients Pediatric Hospitals Plasma Randomized Rare Diseases Recording of previous events Recruitment Activity Research Research Personnel Research Subjects Resources Retinal Cone Sensory Simvastatin Sjogren-Larsson Syndrome Skin Smith-Lemli-Opitz Syndrome Sterols Supplementation Supraoptic Vertical Ophthalmoplegia Syndrome Testing Therapeutic Therapeutic Clinical Trial Therapy Clinical Trials Training Programs Training and Education Treatment Efficacy Trust Ubiquinone United States National Institutes of Health Universities Urinary Diversion Vision absorption antioxidant therapy behavior test effective therapy follow-up improved in vivo indexing insight isoprenoid leukodystrophy malformation member multidisciplinary neurocognitive test programs research clinical testing research study response retinal rods stable isotope

项目摘要

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.

该应用程序描述了一个独特的财团的发展（固醇和异丙也疾病研究联盟或楼梯）研究一组受共同生物化学约束的疾病，对健康和稀有性：脑筋质的黄瘤病（CTX），高免疫球蛋白血症D与周期性发烧综合征（HIDS），Niemann-Pick疾病C型（NPC），Sitosterolemia，Sjogren-Larsson综合征（SLS）和Smith-Lemli-Opitz综合征（SLO）。楼梯活动将由一个团队进行调查人员因其临床研究的优势和资源而选择，合作的悠久历史，各种地理分布，以允许潜在的研究对象最大程度地访问其个人改善患者健康的动机，以及其机构的承诺支持财团。五年来，楼梯将进行两项主要的临床研究（纵向自然史研究 NPC和一项治疗试验，以评估抗氧化剂治疗在SLOS和六个初步研究中的功效涉及SLS，SLO，CTX，HID或SITOSTOSTORPERLEMIA的患者的研究。与壁内一起 NIH计划，该财团将支持固醇和异丙也是疾病并与NIH RDCRN共享其资源和数据。参与的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内布拉斯加州大学医学中心和曼尼托巴大学儿童医院医疗中心（加拿大）。 OHSU将成为该财团的行政故乡。患者支持组织（史密斯 Lemli Opitz/RSH基金会，Hide＆Seek Foundation，Ara Parseghian医学研究基金会，达娜的天使研究信托基金会，鱼质病和相关皮肤类型的基础以及联合白细胞营养基金会）将参加财团活动。总而言之，楼梯将养育多学科临床研究，促进培训和教育和支持项目，以探索有希望的在理解，诊断和治疗固醇和类异型疾病方面的铅。