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错误，即卟啉症。RDCRC最初将汇集五个地区中心、美国波特病基金会(APF)、波特病患者倡导和支持团体以及正在改进和/或开发新疗法的生物制药公司的高级波特病专家的互补优势。所有五个中心都位于学术机构，这些机构拥有NIH资助的CTSA[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[德克萨斯大学医学分校加尔维斯顿分校(UTMB)和西奈山医学院(MSSM)]。这些中心的卟啉病专家包括一支由翻译和临床研究人员组成的已经具有互动性和跨学科的团队，他们拥有积极的基础和临床研究计划，在培训年轻研究人员方面有良好的记录，以及国际公认的临床专业知识。他们的联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来推动对卟啉病的临床研究。我们还建议培训下一代临床和转化性卟啉专家，部分由这笔赠款和患者和行业向APF捐赠的100万美元配对赠款支持。首席和联合首席研究员将分别是MSSM遗传学和基因组科学系教授兼主任罗伯特·J·德斯尼克博士和UTMB预防医学和社区健康教授卡尔·E·安德森博士。其他三个Con-sortium网站将由加州大学旧金山分校的医学教授D.Montgomery Bissell、UAB的医学教授Joseph R.Blomer和UOU的医学教授James P.Kushner指导。随着时间的推移，将包括更多的附属中心作为资金许可，包括来自其他赠款和慈善来源的支持。与公共卫生相关：拟议的Porporria RDCRC将汇集五个学术机构的资深Porporria专家；美国Porporria基金会(APF)，美国唯一的患者教育、支持和倡导组织；以及产业界开展临床研究和临床试验，以加速改进对这些罕见疾病患者的诊断和治疗。此外，拟议的RDCRC将为下一代卟啉病临床研究人员提供培训和职业发展，他们将确保这些疾病患者未来的进步。

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.