Porphyrias Consortium

卟啉症联盟

• 批准号: 9804148
• 负责人: Robert J Desnick
• 金额: $ 140.5万
• 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/9804148
• 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; 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.

总体而言，卟啉联合体 摘要 我们建议继续和扩大Porporrias联合会的临床研究和培训计划 (PC)，一个目前由罕见疾病临床研究网络(RDCRN)资助的联盟，专注于 血红素生物合成的先天错误，即卟啉症。个人电脑带来了互补的 六个区域中心的高级门户病专家的优势；美国门户病基金会(APF)， 只有美国的卟啉症患者倡导和支持组织；以及生物制药公司感兴趣 改善对这些不同疾病的诊断和/或开发新的治疗方法。首席调查员 行政助理将是罗伯特·J·德斯尼克，博士，医学博士，西奈山伊坎医学院 (ISMMS)和约翰·D·菲利普斯(John D.Phillips)，分别是犹他大学(Uou)博士。其他四个财团 董事：卡尔·E·安德森，医学博士，德克萨斯大学加尔维斯顿医学分校(UTMB)，D.蒙哥马利 比塞尔，医学博士，加州大学旧金山分校(加州大学旧金山分校)；Brendan McGuire，医学博士，阿拉巴马大学 伯明翰大学(UAB)博士；维克森林大学(WF)医学博士赫伯特·L·邦科夫斯基(Herbert L.Bonkovsky)。这些卟啉症专家 组成一个由翻译和临床研究人员组成的互动和跨学科团队，他们拥有积极的基础知识 和临床卟啉症研究计划，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合作 完成总体进度报告中记录的PC的原始目标。个人电脑有 在9年内招募了840多名患者参加纵向研究(LS)，以记录每个患者的自然病史 此外，还启动了其他九项临床研究或试验，以及若干试点/示范项目。我们会 继续招收患者加入LS。此外，我们还将继续培养下一代卟啉 专家，由患者和行业捐赠的赠款支持。这些也将支持扩大我们的 参与LS的卫星站点。新的研究将集中在改变用途的药物的第一阶段临床试验 急性肝病新致病基因的发现及其在红系血液病治疗中的应用 卟啉症和红系原卟啉表型，急性间歇期修饰基因的鉴定 ，建立一个国际诊断协作组，以更好地诊断卟啉病患者，以及一个 评估哈沃尼作为迟发性皮肤卟啉病的唯一治疗方法的试点临床试验。这些研究应该引领 更有效地管理和治疗这些疾病。筹委会的目的是继续作为 RDCRN资助15年后成立的专门财团。我们预计此次5年续订将产生 足够的新诊断和治疗信息，使我们能够申请额外的补助金，以维持 个人电脑的基础设施和支持创新研究。