Porphyrias Consortium: Supplement

卟啉症联盟：补充

• 批准号: 10227540
• 负责人: Robert J Desnick
• 金额: $ 3.81万
• 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 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10227540
• 关键词: Acute; Acute Intermittent Porphyria; Address; Affect; Alabama; American; Area; Atlases; Benign; Biochemical; Biological Assay; Biological Markers; Biological Products; California; Canada; Child; Chronic; Cimetidine; Clinical; Clinical Investigator; Clinical Protocols; Clinical Research; Clinical Trials; Collaborations; Development; Diagnosis; Diagnostic; Diagnostic Procedure; Diagnostic tests; Disease; Distant; Doctor of Philosophy; Effectiveness; Enrollment; Ensure; Erythropoietic Porphyria; Erythropoietic Protoporphyria; European; Faculty; Family; Foundations; France; Funding; Future; Genes; Genomics; Genotype; Grant; Health; Hearing; Heme; Hepatic Porphyrias; Hepatitis C; Hereditary Disease; Heterozygote; Industry; Infrastructure; Intention; International; Kidney Diseases; Laboratories; Lead; Letters; Link; Literature; Longitudinal Studies; Medical; Molecular; Mutation; Natural History; Nova Scotia; Paris, France; Pathogenesis; Pathogenicity; Patient Recruitments; Patient advocacy; Patients; Pharmaceutical Preparations; Pharmacologic Substance; Phase; Phase I/II Clinical Trial; Phenotype; Phototoxicity; Physicians; Porphobilinogen; Porphyria Cutanea Tarda; Porphyrias; Principal Investigator; Procedures; Progress Reports; Rare Diseases; Records; Recurrence; Registries; Research; Research Personnel; San Francisco; Site; Sun Exposure; Supervision; Support Groups; Symptoms; Texas; Time; Training; Training Programs; Universities; University Hospitals; Update; Utah; Variant; Voice; Work; accurate diagnosis; base; clinical efficacy; design; effective therapy; forest; heme biosynthesis; high risk; improved; innovation; interest; medical schools; medical specialties; member; next generation; novel; novel diagnostics; novel therapeutics; open label; preclinical study; prevent; programs; recruit; translational scientist; urinary; web site

PORPHYRIAS CONSORTIUM OVERALL ABSTRACT We propose to continue and expand the clinical research and training programs of the Porphyrias Consortium (PC), a currently funded Consortium of the Rare Disease Clinical Research Network (RDCRN) that focuses on the inborn errors of heme biosynthesis, the porphyrias. The PC has brought together the complementary strengths of the senior porphyria experts at six regional centers; the American Porphyria Foundation (APF), the only US porphyria patient advocacy and support group; and biopharmaceutical companies interested in improving diagnosis and/or developing novel therapies for these diverse diseases. The Principal Investigator and Administrative Coordiantor will be Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai (ISMMS) and John D. Phillips, PhD, University of Utah (UoU), respectively. The other four Consortium Directors are Karl E. Anderson, MD, University of Texas Medical Branch, Galveston (UTMB), D. Montgomery Bissell, MD, University of California at San Francisco (UCSF); Brendan McGuire, MD, University of Alabama at Birmingham (UAB); and Herbert L. Bonkovsky, MD, Wake Forest University (WF). These porphyria experts form an interactive and interdisciplinary team of translational and clinical investigators who have active basic and clinical porphyria research programs, strong track records for training young investigators, and internationally recognized clinical expertise. For the past nine years, they have worked as an effective team to accomplish the original objectives of the PC as documented in the overall progress report. The PC has recruited over 840 patients in <9 years to the Longitudinal Study (LS) to document the natural history of each porphyria, and initiated nine other clinical studies or trials, and several pilot/demonstration projects. We will continue to enroll patients into the LS. In addition, we will continue training the next generation of porphyria experts, supported by grants donated by patients and industry. These will also support the expansion of our Satellite Sites which participate in the LS. New studies will focus on phase 1 clincial trials of repurposed drugs as treatments for the erythopoietic porphryias, identification of new causative genes for the Acute Hepatic Porphyria and Erythropoietic Protoporphyria phenotypes, identification of modifier genes for Acute Intermittent Porphyria, establishing an international diagnostic collaborative to better diagnose porphyria patients, and a pilot clinical trial assessing Harvoni as a sole treatment for porphyria cutanea tarda. These studies should lead to more effective management and treatment of these diseases. It is the intention of the PC to continue as a dedicated Consortium after year 15 of RDCRN funding. We expect that this 5 year renewal will generate sufficient new diagnostic and treatment information to allow us to apply for additional grants to maintain the infrastructure of the PC and support innovative research.

卟啉症联盟整体 抽象的 我们建议继续并扩大卟啉症联盟的临床研究和培训项目 (PC)，目前资助的罕见病临床研究网络 (RDCRN) 联盟，专注于 血红素生物合成的先天性错误，即卟啉症。 PC 汇集了互补的 六个区域中心的高级卟啉症专家的优势；美国卟啉症基金会 (APF) 唯一的美国卟啉症患者倡导和支持小组；以及感兴趣的生物制药公司 改善这些不同疾病的诊断和/或开发新疗法。首席研究员 行政协调员将是西奈山伊坎医学院的 Robert J. Desnick 博士、医学博士 (ISMMS) 和犹他大学 (UoU) 约翰·D·菲利普斯 (John D. Phillips) 博士。其他四个财团 董事为卡尔·E·安德森 (Karl E. Anderson) 医学博士、加尔维斯顿德克萨斯大学医学分部 (UTMB)、D. Montgomery Bissell，医学博士，加州大学旧金山分校 (UCSF)； Brendan McGuire，医学博士，阿拉巴马大学 伯明翰 (UAB)；和 Herbert L. Bonkovsky，医学博士，维克森林大学 (WF)。这些卟啉症专家 组建一个由具有活跃基础知识的转化和临床研究人员组成的互动和跨学科团队 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。在过去的九年里，他们作为一个有效的团队工作， 完成总体进度报告中记录的 PC 最初目标。电脑有 在不到 9 年的时间里招募了 840 多名患者进行纵向研究 (LS)，以记录每个患者的自然史 卟啉症，并启动了其他九项临床研究或试验，以及几个试点/示范项目。我们将 继续将患者纳入 LS。另外，我们还会继续训练下一代卟啉症 专家，并得到患者和行业捐赠的资助。这些也将支持我们的扩展 参与 LS 的卫星站点。新研究将重点关注再利用药物的一期临床试验 作为红细胞生成性卟啉病的治疗方法，鉴定急性肝病的新致病基因 卟啉症和红细胞生成性原卟啉症表型，急性间歇性修饰基因的鉴定 卟啉症，建立国际诊断合作组织以更好地诊断卟啉症患者，以及 评估 Harvoni 作为迟发性皮肤卟啉症唯一治疗方法的试点临床试验。这些研究应该引导 以便更有效地管理和治疗这些疾病。 PC 的目的是继续作为 RDCRN 资助第 15 年后成立专门联盟。我们预计这 5 年续约将产生 足够的新诊断和治疗信息使我们能够申请额外拨款以维持 PC 基础设施并支持创新研究。