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Administrative Supplemental for Porphyria Rare Disease Clinical Research Consortium (RDCRC)

卟啉症罕见病临床研究联盟 (RDCRC) 行政补充文件

基本信息

批准号：
10599619
负责人：
MANISHA BALWANI
金额：
$ 23.15万
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/10599619
关键词：
Acute Acute Intermittent Porphyria Address Administrative Supplement Affect Alabama American Area Atlases Benign Biochemical Biological Assay Biological Markers 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 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 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 biopharmaceutical industry clinical efficacy design drug repurposing effective therapy effectiveness evaluation 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.

聚生卟啉总体摘要我们建议继续和扩大卟啉联盟的临床研究和培训计划 (PC)，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缺陷卟啉症PC将互补的六个区域中心的高级卟啉病专家的优势;美国卟啉病基金会（APF），只有美国卟啉症患者的倡导和支持小组;和生物制药公司感兴趣，改善诊断和/或开发针对这些不同疾病的新疗法。主要研究者行政协调员将是西奈山伊坎医学院的Robert J. Desnick博士，医学博士（ISMMS）和John D.菲利普斯，博士，犹他州大学（UoU），分别。其他四个财团导演是卡尔·E。安德森，医学博士，得克萨斯大学医学分支，加尔维斯顿（UTMB），D。蒙哥马利 Bissell，医学博士，加州大学弗朗西斯科分校（UCSF）; Brendan McGuire，医学博士，亚拉巴马大学， Birmingham（UAB）;和赫伯特L. Bonkovsky，医学博士，维克森林大学（WF）。这些卟啉症专家形成一个互动和跨学科的翻译和临床研究人员谁拥有积极的基本团队和临床卟啉症研究计划，培训年轻研究人员的良好记录，国际公认的临床经验。在过去的九年里，他们作为一个高效的团队合作，完成总体进度报告中记录的PC的原始目标。个人电脑在<9年的时间里招募了840多名患者进行纵向研究（LS），以记录每种疾病的自然史。卟啉症，并启动了其他9项临床研究或试验，以及几个试点/示范项目。我们将继续将患者入组LS。此外，我们将继续培养下一代卟啉症专家，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。新的研究将集中在重新用途药物的1期临床试验上作为造血性卟啉病的治疗，鉴定急性肝细胞癌的新致病基因，卟啉症和红细胞生成性原卟啉症表型，急性间歇性卟啉症，建立国际诊断合作以更好地诊断卟啉症患者，以及评估Harvoni作为迟发性皮肤卟啉症唯一治疗方法的试点临床试验。这些研究应该会导致更有效地管理和治疗这些疾病。筹委会打算继续作为一个在RDCRN资助的第15年后，专门的财团。我们预计，这5年的更新将产生足够的新的诊断和治疗信息，使我们能够申请额外的赠款，以维持 PC的基础设施和支持创新研究。