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，该联盟将重点研究血红素生物合成的先天性缺陷——卟啉症。 RDCRC 最初将汇集五个区域中心的高级卟啉症专家、美国卟啉症基金会 (APF)、卟啉症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。所有五个中心均位于拥有 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 [德克萨斯大学加尔维斯顿分校医学分院 (UTMB) 和西奈山医学院 (MSSM)] 的学术机构。这些中心的卟啉症专家由一个由转化和临床研究人员组成的互动和跨学科团队组成，他们拥有活跃的基础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。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性卟啉症专家，部分由这笔赠款以及患者和行业向 APF 捐赠的 100 万美元配套赠款提供支持。首席和联合首席研究员将分别是 MSSM 遗传学和基因组科学教授兼主席 Robert J. Desnick 博士、医学博士和 UTMB 预防医学和社区健康教授 Karl E. Anderson 医学博士。其他三个联盟站点将由 UCSF 医学教授 D. Montgomery Bissell 医学博士、UAB 医学教授 Joseph R. Bloomer 医学博士和 UoU 医学教授 James P. Kushner 医学博士指导。随着时间的推移，在资金允许的情况下，将包括更多的附属中心，包括其他赠款和慈善来源的支持。公共卫生相关性：拟议的卟啉症 RDCRC 将汇集五个学术机构的高级卟啉症专家；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；和行业开展临床研究和临床试验，以加快开发改进这些罕见疾病患者的诊断和治疗方法。此外，拟议的 RDCRC 将为下一代卟啉症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的未来进步。