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Development of Targeted Therapies for Peroxisome Biogenesis Disorders: Current and future prospects

过氧化物酶体生物合成障碍靶向治疗的发展：当前和未来前景

基本信息

批准号：
9261342
负责人：
JOSEPH G HACIA
金额：
$ 1.3万
依托单位：
UNIVERSITY OF SOUTHERN CALIFORNIA
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-09-30 至 2018-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9261342
关键词：
Address Advocate American Animal Model Area Biogenesis Biological Models Blindness Cell Therapy Cell Transplantation Cells Clinical Clinical Research Clinical Trials Clinical Trials Design Committee Members Communities Development Disease Family Fertilization Foundations Future Genes Goals Hearing Hepatic Hereditary Disease Human Human Genetics Individual Interdisciplinary Study International Intervention Kidney Lead Longevity Manuscripts Medical Mentors Natural History Neuraxis Neurologic Neurosciences Other Genetics Participant Patient Recruitments Patients Peroxisomal Disorders Physicians Play Process Publications Rare Diseases Recruitment Activity Research Research Personnel Role Science Scientist Societies Summary Reports Therapeutic Therapeutic Intervention Translational Research base body system disease natural history drug development effective therapy expectation experience gene therapy gene transplantation for gene therapy improved innovation interest meetings multidisciplinary novel patient population peroxisome preclinical study respiratory skeletal abnormality small molecule symposium targeted treatment therapeutic development

项目摘要

The Development of Targeted Therapies for Peroxisome Biogenesis Disorders: Current and future prospects conference will provide a forum for multidisciplinary investigators to discuss emerging therapeutic opportunities for peroxisome biogenesis disorders (PBDs). Our overarching goal is to develop a roadmap for PBD therapeutic development based on the discussions that originate from and extend beyond this conference. PBDs are a disease spectrum that impacts the functions of multiple organ systems, with the most profound effects on the central nervous system, and leads to a shortened life span. In addition to the neurological aspects of disease, patients most typically manifest a progressive loss of vision and hearing as well as respiratory, hepatic, renal, and skeletal abnormalities. The therapeutic roadmap generated as a result of this conference will be used by clinically-oriented colleagues and relevant disease foundations, the Global Foundation for Peroxisomal Disorders (GFPD) and RhizoKids International, to plan for future translational research initiatives. The audience will be comprised of a diverse community of individuals with complementary areas of expertise including physician-scientists who treat patients with PBDs, translational researchers, basic scientists, and patient advocates, all of whom share an interest in therapeutic initiatives for rare diseases, including PBDs. Special emphasis will be placed on the participation of junior investigators and trainees, with the expectation that they will provide novel ideas and perspectives and also benefit from interacting with the community-based therapeutic planning efforts at the conference. Participants from underrepresented communities in the neurosciences and general medical sciences will provide important perspectives and be involved in critical discussions about patient recruitment and access to newly developed treatments. The diverse scientific community and patient advocates participating at this conference will allow for a cross-fertilization of ideas relevant to translational research that may not be achievable in more general meetings, such as those of the American Society of Gene and Cell Therapy (ASGCT) and the American Society of Human Genetics (ASHG).

过氧化物酶体生物发生障碍靶向治疗的发展：当前和未来的前景会议将为多学科研究人员提供一个论坛，讨论过氧化物酶体生物发生障碍（PBD）的新兴治疗机会。我们的总体目标是根据本次会议的讨论和扩展，为PBD治疗开发制定路线图。PBD是一种影响多个器官系统功能的疾病谱，对中枢神经系统的影响最为深远，并导致寿命缩短。除了疾病的神经方面，患者最典型地表现为视力和听力的进行性丧失以及呼吸、肝脏、肾脏和骨骼异常。本次会议产生的治疗路线图将由临床导向的同事和相关疾病基金会，全球过氧化物酶体疾病基金会（GFPD）和Ryndal Kids International用于规划未来的转化研究计划。观众将由具有互补专业领域的个人组成的多元化社区，包括治疗PBD患者的医生-科学家，转化研究人员，基础科学家和患者倡导者，所有人都对罕见疾病的治疗计划感兴趣，包括PBD。将特别强调初级研究人员和受训人员的参与，期望他们提供新的想法和观点，并从与会议上以社区为基础的治疗规划工作的互动中受益。来自神经科学和普通医学科学代表性不足的社区的参与者将提供重要的观点，并参与关于患者招募和获得新开发治疗的关键讨论。参加本次会议的不同科学界和患者倡导者将允许与转化研究相关的想法的交叉施肥，这可能在更一般的会议中无法实现，例如美国基因和细胞治疗学会（ASGCT）和美国人类遗传学学会（ASHG）。