Porphyria Rare Disease Clinical Research Consortium (RDCRC)

卟啉症罕见病临床研究联盟 (RDCRC)

• 批准号: 8765263
• 负责人: Robert J Desnick
• 金额: $ 125万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2019-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8765263
• 关键词: Acute; Acute Intermittent Porphyria; Address; Alabama; American; Area; Biological Assay; Biological Markers; Biological Products; California; Clinic; Clinical; Clinical Investigator; Clinical Research; Clinical Trials; Collaborations; Data; Diagnosis; Diagnostic Procedure; Disease; Distant; Doctor of Philosophy; Dose; Drug usage; Enrollment; Erythrocytes; Erythropoietic Porphyria; Focus Groups; Foundations; Frequencies; Funding; Future; Genes; Genotype; Grant; Healthcare Systems; Hematin; Hepatic; Hepatic Porphyrias; Hepatocyte; Heterozygote; Human; Hydroxychloroquine; Inborn Genetic Diseases; Industry; Institution; Intervention Studies; Investigation; Laboratories; Lead; Link; Literature; Longitudinal Studies; Medical; Messenger RNA; Mutation; Natural History; Neuropathy; Observational Study; Pathogenesis; Patient Recruitments; Patient advocacy; Patients; Pharmaceutical Preparations; Phase; Phenotype; Physicians; Plasma; Porphyrias; Principal Investigator; Progress Reports; RNA Interference; Rare Diseases; Records; Recruitment Activity; Recurrence; Registries; Research; Research Personnel; Research Training; Safety; San Francisco; Site; Support Groups; Susceptibility Gene; System; Texas; Tissues; Training; Training Programs; Universities; Update; Utah; Venous blood sampling; Work; base; clinical Diagnosis; clinical efficacy; heme biosynthesis; improved; interest; isoniazid; medical schools; medical specialties; next generation; novel; open label; outreach; painful neuropathy; programs; protoporphyrin IX; public health relevance; tool; urinary; web site

DESCRIPTION (provided by applicant): We propose to continue and expand the clinical research and training programs of the Porphyrias Consortium (PC), a currently funded Consortium of the Rare Disease Clinical Research Network (RDCRN) that focuses on the inborn errors of heme biosynthesis, the porphyrias. The PC has brought together the complementary strengths of the senior porphyria experts at six regional centers; the American Porphyria Foundation (APF), the only US porphyria patient advocacy and support group; and biopharmaceutical companies interested in improving diagnosis and/or developing novel therapies for these diverse diseases. The Principal Investigator and Administrative Director will be Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai (MSSM) and Karl E. Anderson, MD, University of Texas Medical Branch, Galveston, respectively. The other four Consortium Directors are D. Montgomery Bissell, MD, University of California at San Francisco (UCSF); Joseph R. Bloomer, MD, University of Alabama at Birmingham (UAB); Herbert L. Bonkovsky, MD, Carolinas HealthCare System (CHS); and John Phillips, PhD, University of Utah (UoU). These porphyria experts form an interactive and interdisciplinary team of translational and clinical investigators who have active basic and clinical porphyria research programs, strong track records for training young investigators, and internationally recognized clinical expertise. For the past four years, they have worked as an effective team to accomplish the original objectives of the PC as documented in the progress reports for each project. The PC recruited over 450 patients in less than three years to the Longitudinal Study (LS) to document the natural history of each porphyria, and initiated six other clinical studies or trials, and a pilot/demonstration project. We will continue to enroll patients into the LS and other studies through the Contact Registry, APF and physician referrals, and the establishment of Outreach Clinics. In addition, we will continue training the next generation of porphyria experts, supported by $1.5 million in matching grants donated by patients and industry. New studies will focus on the acute hepatic porphyrias, including a project to identify safe new drugs and an in-depth observational study prior to clinical trials of Panhematin(r) and a novel RNA interference therapy. The pilot/demonstration program will include investigation of porphyria candidate modifier genes, Skype-based focus groups, and an exosome assay for hepatic ALAS1. These studies should lead to more effective management and treatment of these diseases.

描述（由申请人提供）：我们建议继续并扩大卟啉菌联盟（PC）的临床研究和培训计划，这是当前资助的稀有疾病临床研究网络（RDCRN）的财团，该联盟重点介绍了Heme Biosynthesis的先天错误，Porphyrias。 PC汇集了六个区域中心的高级卟啉症专家的互补优势。美国斑岩基金会（APF），这是美国唯一的卟啉症患者倡导和支持组；以及有兴趣改善这些不同疾病的新型疗法和/或开发新型疗法的生物制药公司。首席调查员兼行政主任将分别为西奈山（MSSM）伊坎医学院的Robert J. Desnick博士和分别是加尔维斯顿德克萨斯大学医学分公司的医学博士Karl E. Anderson。其他四个财团主管是加利福尼亚大学旧金山大学（UCSF）的医学博士D. Montgomery Bissell；约瑟夫·布鲁默（Joseph R. Bloomer），医学博士，阿拉巴马大学伯明翰大学（UAB）； Carolinas Healthcare System（CHS）医学博士Herbert L. Bonkovsky；和犹他大学（UOU）的John Phillips博士。这些卟啉症专家组成了一个互动和跨学科的团队，由具有活跃的基本和临床卟啉症研究计划，培训年轻研究者的良好记录以及国际认可的临床专业知识。在过去的四年中，他们一直是一个有效的团队，以实现每个项目的进度报告中记录的PC的原始目标。该PC在不到三年的时间内招募了450多名患者进行纵向研究（LS），以记录每个卟啉的自然病史，并启动了其他六项临床研究或试验， 和试点/示范项目。我们将继续通过接触注册表，APF和医师推荐以及建立外展诊所将患者纳入LS和其他研究。此外，我们还将继续培训下一代卟啉症专家，并得到150万美元的匹配患者和行业捐赠的赠款的支持。新的研究将集中在急性肝卟啉症上，包括一个鉴定安全新药的项目和深入的观察性研究，然后在进行Panhematin（R）临床试验和一种新型的RNA干扰疗法。试点/示范计划将包括研究卟啉症候选修饰符基因，基于Skype的焦点组和肝ALAS1外泌体测定法。这些研究应导致对这些疾病的更有效的管理和治疗。