Porphyria Rare Disease Clinical Research Consortium (RDCRC)

卟啉症罕见病临床研究联盟 (RDCRC)

基本信息

批准号：
8934078
负责人：
Robert J Desnick
金额：
$ 124.88万
依托单位：
ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
依托单位国家：
美国
项目类别：
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/8934078
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

项目摘要

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症联盟 (PC) 的临床研究和培训项目，该联盟目前由罕见病临床研究网络 (RDCRN) 资助，专注于血红素生物合成的先天性缺陷，卟啉症。 PC 汇集了六个区域中心的高级卟啉症专家的优势互补；美国卟啉症基金会 (APF)，美国唯一的卟啉症患者倡导和支持组织；以及对改善这些不同疾病的诊断和/或开发新疗法感兴趣的生物制药公司。首席研究员和行政主任将分别是西奈山伊坎医学院 (MSSM) 的 Robert J. Desnick 博士、医学博士和加尔维斯顿德克萨斯大学医学分院的 Karl E. Anderson 医学博士。其他四位联盟董事是加州大学旧金山分校 (UCSF) 医学博士 D. Montgomery Bissell； Joseph R. Bloomer，医学博士，阿拉巴马大学伯明翰分校 (UAB)； Herbert L. Bonkovsky，医学博士，卡罗莱纳州医疗保健系统 (CHS)；和约翰·菲利普斯博士，犹他大学 (UoU)。这些卟啉症专家组成了一个由转化和临床研究人员组成的互动和跨学科团队，他们拥有活跃的基础和临床卟啉症研究项目、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 最初目标。 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)，以记录每种卟啉症的自然史，并启动了其他六项临床研究或试验，和一个试点/示范项目。我们将继续通过联系登记处、APF 和医生转介以及建立外展诊所，将患者纳入 LS 和其他研究。此外，我们将在患者和行业捐赠的 150 万美元等额赠款的支持下，继续培训下一代卟啉症专家。新的研究将集中于急性肝卟啉症，包括一个确定安全新药的项目以及在 Panhematin(r) 和一种新型 RNA 干扰疗法临床试验之前进行的深入观察研究。试点/示范计划将包括对卟啉症候选修饰基因的研究、基于 Skype 的焦点小组以及肝脏 ALAS1 的外泌体测定。这些研究应该能够更有效地管理和治疗这些疾病。