Sterol and Isoprenoid Diseases Consortium

描述（由申请人提供）：本申请描述了一个独特的联盟（固醇和类异丙二烯类疾病研究联盟或STAIR）的发展，以研究一组由常见生物化学、对健康的影响和罕见性联系在一起的疾病：脑腱鞘黄瘤病（CTX）、高免疫球蛋白血症D伴周期性发热综合征（HIDS）、尼曼-匹克病C型（NPC）、谷固醇血症、Sjogren-Larsson综合征（SLS）和Smith-Lemli-Opitz综合征（SLS）。STAIR活动将由一组研究人员执行，这些研究人员是根据他们的临床研究优势和资源、长期合作的历史、允许潜在研究对象最大限度接触的不同地理分布、他们改善患者健康的个人动机以及他们所在机构支持联盟的承诺来选择的。未来5年，STAIR将开展两项主要临床研究（鼻咽癌的纵向自然病史研究和评估抗氧化治疗在SLOS中的疗效的治疗性试验），以及6项涉及SLS、SLOS、CTX、HIDS或Sitosterolemia患者的试点研究。与校内NIH计划一起，该联盟将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共享其资源和数据。参与机构包括俄勒冈健康与科学大学（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将是该联盟的行政总部。患者支持组织（Smith Lemli Opitz/RSH基金会、Hide and Seek基金会、Ara parsegian医学研究基金会、Dana’s Angels研究信托基金、鱼鳞病及相关皮肤类型基金会和联合白质营养不良基金会）将参与联盟的活动。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方面有希望的线索。公共卫生相关性：正如家族性高胆固醇血症所证明的那样，对这些罕见疾病的研究无疑将为常见疾病提供宝贵的见解，并导致改进的治疗方法。

DESCRIPTION (provided by applicant): 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. PUBLIC HEALTH RELEVANCE: As proven with familial hypercholesterolemia, research into these rare disorders will undoubtedly offer invaluable insights into common disorders and lead to improved treatments.