Porphyria Rare Disease Clinical Research Consortium (RDCRC)

卟啉症罕见病临床研究联盟 (RDCRC)

• 批准号: 7680477
• 负责人: Robert J Desnick
• 金额: $ 102.89万
• 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 2014-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7680477
• 关键词: Alabama; American; Biological Products; California; Clinical; Clinical Investigator; Clinical Research; Clinical Trials; Community Health; Development; Diagnosis; Disease; Doctor of Philosophy; Foundations; Funding; Future; Genetic; Genomics; Grant; Inborn Genetic Diseases; Industry; Institution; Medical; Medicine; Patient Education; Patient advocacy; Patients; Porphyrias; Preventive Medicine; Principal Investigator; Rare Diseases; Research; Research Personnel; Resources; San Francisco; Science; Site; Source; Support Groups; Texas; Time; Training; United States; Universities; Utah; advocacy organizations; career development; heme biosynthesis; improved; medical schools; next generation; novel; professor; programs; public health relevance

DESCRIPTION (provided by applicant): We propose to establish a Rare Diseases Clinical Research Consortium (RDCRC) as a part of the Rare Disease Clinical Research Network (RDCRN) that will focus on the inborn errors of heme biosynthesis, the Porphyrias. The RDCRC will initially bring together the complementary strengths of senior porphyria experts at five regional centers, the American Porphyria Foundation (APF), the porphyria patient advocacy and support group, and biopharmaceutical companies improving and/or developing novel therapies. All five centers are at academic institutions that have NIH-funded CTSAs [University of California, San Francisco (UCSF), University of Alabama, Birmingham (UAB), and the University of Utah (UoU)], or GCRCs [University of Texas Medical Branch, Galveston (UTMB), and The Mount Sinai School of Medicine (MSSM)]. The porphyria experts at these centers comprise an already interactive and interdisciplinary team of translational and clinical investigators who have active basic and clinical porphyria research programs, a strong track record for training young investigators, and internationally recognized clinical expertise. Their combined resources and expertise will advance clinical research in the porphyrias through the clinical studies and trials described in this application. We also propose to train the next generation of clinical and translational porphyria experts, supported in part by this grant and a $1 million matching grant donated by patients and industry to the APF. The Principal and Co-Principal Investigators will be Robert J. Desnick, PhD, MD, Professor and Chair of Genetics and Genomic Sciences at MSSM and Karl E. Anderson, MD, Professor of Preventive Medicine and Community Health at UTMB, respectively. The three other Con- sortium sites will be directed by D. Montgomery Bissell, MD, Professor of Medicine at UCSF, Joseph R. Bloomer, MD, Professor of Medicine at UAB, and James P. Kushner, MD, Professor of Medicine at UoU. Additional affiliate centers will be included over time as funding permits, including support from other grants and philanthropic sources. PUBLIC HEALTH RELEVANCE: The proposed Porphyria RDCRC will bring together senior porphyria experts at five academic institutions; the American Porphyria Foundation (APF), the only patient education, support, and advocacy organization in the United States; and Industry to carry out clinical studies and clinical trials to accelerate the development of improved diagnosis and treatment for the patients with these rare diseases. In addition, the proposed RDCRC will provide the training and career development of the next generation of porphyria clinical investigators who will insure future advances for patients with these diseases.

描述（由申请人提供）：我们建议建立罕见的疾病临床研究联盟（RDCRC），作为罕见疾病临床研究网络（RDCRN）的一部分，该网络将重点介绍血红素生物合成的先天误差，即卟啉。 RDCRC最初将汇集五个区域中心，美国斑岩基金会（APF），斑岩患者的倡导和支持小组以及生物制药公司改善和/或开发新型疗法的生物制药公司的互补优势。所有五个中心均在NIH资助的CTSAS [加利福尼亚大学，旧金山大学（UCSF）（UCSF），阿拉巴马大学，伯明翰大学（UAB）和犹他大学（UOU）]或GCRCS [GCRCS] [德克萨斯大学医学院，加尔维斯顿大学（UTMB）和Mount Sinai Sinai of Medicine（MSSM）]。这些中心的卟啉症专家组成了一个已经具有活跃基础和临床卟啉症研究计划的转化和临床研究人员的互动和跨学科团队，这是培训年轻研究者的良好往绩以及国际认可的临床专业知识。他们的综合资源和专业知识将通过本应用程序中描述的临床研究和试验来推动卟啉症的临床研究。我们还建议培训下一代临床和翻译卟啉症专家，部分得到了这笔赠款的支持，并向患者和行业捐赠了100万美元的匹配赠款。主要兼联合首席研究人员将是MSSM的Robert J. Desnick博士，医学博士，医学博士，医学博士，遗传学和基因组科学教授兼主席，UTMB的预防医学和社区健康教授Karl E. Anderson，MD。其他三个派系站点将由UCSF医学教授，医学博士D. Montgomery Bissell，UAB医学教授Joseph R. Bloomer和UOU医学教授James P. Kushner医学博士。随着时间的推移，将包括其他赠款和慈善资源的支持，随着时间的推移，额外的会员中心将被包括在内。公共卫生相关性：拟议的卟啉症RDCRC将在五个学术机构中汇集高级卟啉症专家；美国斑岩基金会（APF）是美国唯一的患者教育，支持和倡导组织；和行业进行临床研究和临床试验，以加快这些罕见疾病患者的诊断和治疗的发展。此外，拟议的RDCRC将提供下一代卟啉症临床研究人员的培训和职业发展，这些研究人员将确保这些疾病患者的未来进步。