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.

卟啉症联盟整体抽象的我们建议继续并扩大卟啉症联盟的临床研究和培训项目 (PC)，目前资助的罕见病临床研究网络 (RDCRN) 联盟，专注于血红素生物合成的先天性错误，即卟啉症。 PC 汇集了互补的六个区域中心高级卟啉症专家的优势；美国卟啉症基金会 (APF) 唯一的美国卟啉症患者倡导和支持小组；以及感兴趣的生物制药公司改善这些不同疾病的诊断和/或开发新疗法。首席研究员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) 和犹他大学 (UoU) 约翰·D·菲利普斯 (John D. Phillips) 博士。其他四个财团董事为卡尔·E·安德森 (Karl E. Anderson) 医学博士、加尔维斯顿德克萨斯大学医学分部 (UTMB)、D. Montgomery Bissell，医学博士，加州大学旧金山分校 (UCSF)； Brendan McGuire，医学博士，阿拉巴马大学伯明翰 (UAB)；和 Herbert L. Bonkovsky，医学博士，维克森林大学 (WF)。这些卟啉症专家组建一个由具有活跃基础知识的转化和临床研究人员组成的互动和跨学科团队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。在过去的九年里，他们作为一个有效的团队工作，完成总体进度报告中记录的 PC 最初目标。电脑有在不到 9 年的时间里招募了 840 多名患者进行纵向研究 (LS)，以记录每个患者的自然史卟啉症，并启动了其他九项临床研究或试验，以及几个试点/示范项目。我们将继续将患者纳入 LS。另外，我们还会继续训练下一代卟啉症专家，并得到患者和行业捐赠的资助。这些也将支持我们的扩展参与 LS 的卫星站点。新研究将重点关注再利用药物的一期临床试验作为红细胞生成性卟啉病的治疗方法，鉴定急性肝病的新致病基因卟啉症和红细胞生成性原卟啉症表型，急性间歇性修饰基因的鉴定卟啉症，建立国际诊断合作组织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。这些研究应该引导以便更有效地管理和治疗这些疾病。 PC 的目的是继续作为 RDCRN 资助第 15 年后成立专门联盟。我们预计这 5 年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拨款以维持 PC 基础设施并支持创新研究。