Porphyria Rare Disease Clinical Research Consortium (RDCRC)

描述（由申请人提供）：我们建议建立一个罕见疾病临床研究联盟（RDCRC），作为罕见疾病临床研究网络（RDCRN）的一部分，该网络将专注于血红素生物合成的先天性错误，即卟啉症。RDCRC最初将汇集五个区域中心的高级卟啉病专家，美国卟啉病基金会（APF），卟啉病患者倡导和支持小组以及改进和/或开发新疗法的生物制药公司的互补优势。所有五个中心都在拥有NIH资助的CTSA的学术机构[加州大学旧金山分校（UCSF），阿拉巴马大学伯明翰分校（UAB）和犹他大学（UoU）]或GCRC [德克萨斯大学加尔维斯顿分校（UTMB）和西奈山医学院（MSSM）]。这些中心的卟啉病专家包括一个已经互动和跨学科的翻译和临床研究人员团队，他们拥有积极的基础和临床卟啉病研究计划，在培训年轻研究人员方面有着良好的记录，以及国际公认的临床专业知识。他们的综合资源和专业知识将通过本申请中描述的临床研究和试验推进卟啉症的临床研究。我们还建议培训下一代临床和转化卟啉病专家，部分由该赠款以及患者和行业向APF捐赠的100万美元匹配赠款支持。主要和共同主要研究者将是MSSM遗传学和基因组科学教授兼主席Robert J. Desnick博士和Karl E.安德森，医学博士，预防医学和社区卫生教授在UTMB，分别。其他三个会议地点将由D。蒙哥马利比塞尔，医学博士，加州大学旧金山分校医学教授，约瑟夫R。布卢默，医学博士，医学教授在UAB和詹姆斯P库什纳，医学博士，医学教授在UoU。随着时间的推移，更多的附属中心将被纳入资金许可，包括来自其他赠款和慈善来源的支持。公共卫生相关性：拟议的卟啉病RDCRC将汇集五个学术机构的高级卟啉病专家;美国卟啉病基金会（APF），美国唯一的患者教育，支持和倡导组织;和行业开展临床研究和临床试验，以加速发展改善诊断和治疗这些罕见疾病的患者。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，他们将确保这些疾病患者的未来发展。

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.