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）：我们建议继续和扩大卟啉病联盟（PC）的临床研究和培训计划，该联盟是一个目前资助的罕见疾病临床研究网络（RDCRN）联盟，专注于血红素生物合成的先天性错误，卟啉病。PC汇集了六个区域中心的高级卟啉病专家的互补优势;美国卟啉病基金会（APF），美国唯一的卟啉病患者倡导和支持团体;以及有兴趣改善诊断和/或为这些不同疾病开发新疗法的生物制药公司。主要研究者和行政主管将是西奈山伊坎医学院（MSSM）的Robert J. Desnick博士和Karl E.加尔维斯顿德克萨斯大学医学分支的医学博士安德森。其他四位董事是D。蒙哥马利Bissell，医学博士，加州大学弗朗西斯科分校（UCSF）;布卢默，医学博士，亚拉巴马大学伯明翰分校（UAB）; Bonkovsky，医学博士，南卡罗来纳州医疗保健系统（CHS）;和约翰菲利普斯，博士，犹他州大学（UoU）。这些卟啉病专家组成了一个由翻译和临床研究人员组成的互动和跨学科团队，他们拥有积极的基础和临床卟啉病研究计划，培训年轻研究人员的良好记录，以及国际公认的临床专业知识。在过去的四年里，他们作为一个有效的团队工作，以实现每个项目进度报告中记录的PC的最初目标。PC在不到三年的时间里招募了450多名患者参加纵向研究（LS），以记录每种卟啉症的自然史，并启动了其他六项临床研究或试验， 一个试点/示范项目。我们将继续通过联系登记、APF和医生转诊以及建立外展诊所招募患者参加LS和其他研究。此外，我们将继续培训下一代卟啉病专家，由患者和行业捐赠的150万美元匹配赠款支持。新的研究将集中在急性肝卟啉症，包括一个项目，以确定安全的新药和深入的观察性研究之前，Panhematin（r）和一种新的RNA干扰疗法的临床试验。试点/示范计划将包括卟啉症候选修饰基因的研究，基于Skype的焦点小组，以及肝脏ALAS 1的外泌体测定。这些研究应导致更有效的管理和治疗这些疾病。