Porphyrias Consortium

卟啉症联盟

基本信息

批准号：
10019513
负责人：
MANISHA BALWANI
金额：
$ 135.74万
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 2024-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10019513
关键词：
Acute Acute Intermittent Porphyria Address Affect Alabama American Area Atlases Benign Biochemical Biological Assay Biological Markers Biological Products California Canada Child Chronic Cimetidine Clinical Clinical Investigator Clinical Protocols Clinical Research Clinical Trials Collaborations Development Diagnosis Diagnostic Diagnostic Procedure Diagnostic tests Disease Distant Doctor of Philosophy Effectiveness Enrollment Ensure Erythropoietic Porphyria Erythropoietic Protoporphyria European Faculty Family Foundations France Funding Future Genes Genomics Genotype Grant Health Hearing Heme Hepatic Porphyrias Hepatitis C Hereditary Disease Heterozygote Industry Infrastructure Intention International Kidney Diseases Laboratories Lead Letters Link Literature Longitudinal Studies Medical Molecular Mutation Natural History Nova Scotia Paris, France Pathogenesis Pathogenicity Patient Recruitments Patient advocacy Patients Pharmaceutical Preparations Pharmacologic Substance Phase Phase I/II Clinical Trial Phenotype Phototoxicity Physicians Porphobilinogen Porphyria Cutanea Tarda Porphyrias Principal Investigator Procedures Progress Reports Rare Diseases Records Recurrence Registries Research Research Personnel San Francisco Site Sun Exposure Supervision Support Groups Symptoms Texas Time Training Training Programs Universities University Hospitals Update Utah Variant Voice Work accurate diagnosis base clinical efficacy design effective therapy forest heme biosynthesis high risk improved innovation interest medical schools medical specialties member next generation novel novel diagnostics novel therapeutics open label preclinical study prevent programs recruit translational scientist urinary web site

项目摘要

PORPHYRIAS CONSORTIUM OVERALL ABSTRACT 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 Coordiantor will be Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai (ISMMS) and John D. Phillips, PhD, University of Utah (UoU), respectively. The other four Consortium Directors are Karl E. Anderson, MD, University of Texas Medical Branch, Galveston (UTMB), D. Montgomery Bissell, MD, University of California at San Francisco (UCSF); Brendan McGuire, MD, University of Alabama at Birmingham (UAB); and Herbert L. Bonkovsky, MD, Wake Forest University (WF). 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 nine years, they have worked as an effective team to accomplish the original objectives of the PC as documented in the overall progress report. The PC has recruited over 840 patients in <9 years to the Longitudinal Study (LS) to document the natural history of each porphyria, and initiated nine other clinical studies or trials, and several pilot/demonstration projects. We will continue to enroll patients into the LS. In addition, we will continue training the next generation of porphyria experts, supported by grants donated by patients and industry. These will also support the expansion of our Satellite Sites which participate in the LS. New studies will focus on phase 1 clincial trials of repurposed drugs as treatments for the erythopoietic porphryias, identification of new causative genes for the Acute Hepatic Porphyria and Erythropoietic Protoporphyria phenotypes, identification of modifier genes for Acute Intermittent Porphyria, establishing an international diagnostic collaborative to better diagnose porphyria patients, and a pilot clinical trial assessing Harvoni as a sole treatment for porphyria cutanea tarda. These studies should lead to more effective management and treatment of these diseases. It is the intention of the PC to continue as a dedicated Consortium after year 15 of RDCRN funding. We expect that this 5 year renewal will generate sufficient new diagnostic and treatment information to allow us to apply for additional grants to maintain the infrastructure of the PC and support innovative research.

整体卟啉菌联盟抽象的我们建议继续并扩大卟啉菌的临床研究和培训计划（PC），目前由罕见疾病临床研究网络（RDCRN）的财团进行的，重点关注血红素生物合成的天生错误，卟啉。 PC汇集了互补的六个区域中心的高级卟啉症专家的优势；美国斑岩基金会（APF），只有美国卟啉症患者的倡导和支持小组；和对生物制药公司感兴趣的公司改善这些多种疾病的诊断和/或开发新的疗法。首席研究员和行政协调员将是西奈山的伊坎医学院医学博士Robert J. Desnick博士（ISMMS）和犹他大学（UOU）的John D. Phillips博士。其他四个联盟董事是德克萨斯大学医学分公司，加尔维斯顿大学（UTMB）的Karl E. Anderson，D。Montgomery 加利福尼亚大学旧金山分校（UCSF）医学博士Bissell；阿拉巴马大学医学博士Brendan McGuire 伯明翰（UAB）；和赫伯特·L·邦科夫斯基（Herbert L.这些卟啉症专家组成具有活跃基本的转化和临床研究人员的互动和跨学科团队以及临床孢子虫研究计划，培训年轻调查员的强大记录以及国际认可的临床专业知识。在过去的九年中，他们一直是一个有效的团队按照整体进度报告中的记录，完成PC的原始目标。 PC有在纵向研究（LS）中招募了840多名患者，以记录每个患者的自然历史卟啉症，并启动了其他九项临床研究或试验，以及一些试点/示范项目。我们将继续将患者纳入LS。此外，我们将继续培训下一代卟啉症专家，由患者和行业捐赠的赠款支持。这些也将支持我们的扩展参与LS的卫星站点。新研究将重点介绍重新利用药物的第1阶段试验作为红细胞生成斑岩的治疗方法，鉴定急性肝的新因果基因卟啉症和红细胞原生形畸形表型，鉴定急性间歇性的修饰基因卟啉症，建立国际诊断协作以更好地诊断卟啉症患者，并且试验临床试验评估Harvoni是卟啉菌Tarda的唯一治疗方法。这些研究应该领导对这些疾病进行更有效的管理和治疗。 PC的目的是继续作为 RDCRN资金15年后专用财团。我们预计这5年的续约将产生足够的新诊断和治疗信息，使我们能够申请额外的赠款以维护 PC的基础设施并支持创新研究。