Porphyria Rare Disease Clinical Research Consortium (RDCRC)

描述（由申请人提供）：我们提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，将专注于血红素生物合成的先天性错误，卟啉症。RDCRC最初将汇集五个区域中心的资深卟啉症专家、美国卟啉症基金会（APF）、卟啉症患者倡导和支持团体以及改进和/或开发新疗法的生物制药公司的互补优势。这五个中心都位于拥有美国国立卫生研究院资助的CTSAs（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GCRCs（德克萨斯大学加尔维斯顿分校（UTMB）和西奈山医学院（MSSM））的学术机构。这些中心的卟啉症专家组成了一个互动性和跨学科的转化和临床研究团队，他们有活跃的基础和临床卟啉症研究项目，在培训年轻研究人员方面有着良好的记录，并拥有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应用程序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症专家，部分由这笔赠款和患者和行业向APF捐赠的100万美元匹配赠款支持。首席研究员和联合首席研究员将分别是MSSM遗传学和基因组科学教授兼主席Robert J. Desnick博士和UTMB预防医学和社区卫生教授Karl E. Anderson博士。另外三个联合网站将由D. Montgomery Bissell医学博士（UCSF医学教授）、Joseph R. Bloomer医学博士（UAB医学教授）和James P. Kushner医学博士（UoU医学教授）负责。随着时间的推移，更多的附属中心将在资金允许的情况下被纳入，包括来自其他赠款和慈善来源的支持。公共卫生相关性：提议的卟啉病RDCRC将汇集五个学术机构的资深卟啉病专家；美国卟啉症基金会（APF），美国唯一的患者教育、支持和倡导组织；和产业界开展临床研究和临床试验，加快发展对这些罕见病患者的改进诊断和治疗。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进步。

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.