PedGeneRx - Admin Supplement to Base Editing and Prime Editing for Sickle Cell Disease R01

PedGeneRx - 镰状细胞病 R01 碱基编辑和 Prime 编辑的管理补充

基本信息

批准号：
10594247
负责人：
DAVID R LIU
金额：
$ 18.2万
依托单位：
ST. JUDE CHILDREN'S RESEARCH HOSPITAL
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-01-01 至 2024-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10594247
关键词：
Academic Medical Centers Address Adenovirus Vector Administrative Supplement Adverse event Affect Age American Attitude Award Belief Benefits and Risks Caring Child Childhood Clinical Clinical Research Clinical Trials Communication Complex Data Decision Aid Decision Making Development Disease Early treatment Education Ensure Face Family Family psychotherapy Gene therapy trial Genetic Health Personnel Healthcare Hemoglobinopathies Hemophilia A Individual Informed Consent International Interview Investigational New Drug Application Knowledge Long-Term Effects Mendelian disorder Methods Morbidity - disease rate Multimedia Needs Assessment Neuromuscular Diseases Non-Viral Vector Online Systems Parents Participant Patients Prevalence Quality of life Rare Diseases Research Research Ethics Research Personnel Safety Semantics Sickle Cell Anemia Structure Techniques Technology Testing Trust Uncertain Risk Uncertainty Underrepresented Minority United States United States Food and Drug Administration Viral Viral Vector Vulnerable Populations Work base editing bench to bedside booster vaccine care delivery care preference clinical practice congenital immunodeficiency cost curative treatments design early phase clinical trial evidence base experience gene therapy improved innovation mortality novel novel therapeutics patient oriented patient-clinician communication pediatric patients pilot test pre-clinical prime editing programs prototype rare genetic disorder risk benefit ratio satisfaction success support tools tool treatment choice vector web platform young adult

项目摘要

ABSTRACT: There is a substantial unmet need for the development of new treatments for patients with monogenic disorders such as sickle cell disease (SCD) and gene therapy technologies represent a potential novel solution. This project addresses an important issue in research ethics – improving the quality of informed consent and building capacity for gene therapy communication with a vulnerable population of research participants (pediatric patients, as well as underrepresented minorities). Since early treatment can reduce long-term morbidity, improve quality of life, and reduce early mortality it is imperative to focus on pediatric patients. In considering gene therapy, families face complex treatment choices when considering whether they should pursue a novel therapy where the long-term effects are uncertain, and the risk-benefit ratios of the different treatment options are difficult to compare. We hypothesize that families have unique informational needs surrounding these treatments and dedicated educational platforms with decisional aids will be crucial to promoting collaborative, family-centered decision-making and overall satisfaction when considering gene therapy for their child's rare disease. Under this administrative supplement, we will conduct a needs assessment (Aim 1) that includes approximately 50 semi- structured interviews with parents whose child (a) had (or been offered) gene therapy or (b) has a disorder where pediatric gene therapy trails are on the horizon. To complete a truly comprehensive needs assessment of the gaps and wants around gene therapy, we will interview 10-20 health care providers with experience caring for pediatric gene therapy families. We will then develop and refine a multimedia web platform that provides families with a toolkit of information about gene therapy, which will include a pediatric gene therapy support tool we develop as part of this aim (Aim 2). To achieve the aims of this patient-focus quality improvement project: the interviews will be audio recorded, transcribed verbatim, and analyzed using semantic-content analysis by an expert team of mixed-methods researchers. We will use validated tools and follow the international standards for patient decision aids. The tools will be developed and refined iteratively through well-established methods of alpha and beta testing pilot content. Our research team plans to work with Booster Shot Media, a company experienced in creating patient-centered content for researchers and academic medical centers to communicate about other aspects of healthcare. This project is innovative and will fill an important gap in patient-provider communication around gene therapy for pediatric disease. Once finalized, this will be the first (to our knowledge) validated, evidenced based decisional-support toolkit available to parents of children with rare disease who are eligible for gene therapy.

抽象的：针对单基因疾病患者开发新疗法的需求尚未得到满足镰状细胞病（SCD）和基因治疗技术等代表了一种潜在的新颖解决方案。项目解决了研究伦理中的一个重要问题——提高知情同意的质量和建立与研究参与者的弱势群体（儿科）进行基因治疗沟通的能力患者以及代表性不足的少数群体），因为早期治疗可以降低长期发病率，改善病情。生活质量并降低早期死亡率，在考虑基因时必须关注儿科患者。疗法，家庭在考虑是否应该寻求新疗法时面临复杂的治疗选择长期影响不确定，并且不同治疗方案的风险效益比很难确定我们追求家庭对这些治疗有独特的信息需求和具有决策辅助功能的专用教育平台对于促进以家庭为中心的协作至关重要在此情况下，考虑对孩子的罕见疾病进行基因治疗时的决策和总体满意度。行政补充，我们将进行需求评估（目标 1），其中包括大约 50 个半对孩子 (a) 接受过（或接受过）基因治疗或 (b) 患有以下疾病的父母进行结构化访谈儿科基因治疗试验即将完成，以完成真正全面的需求评估。关于基因治疗的差距和需求，我们将采访 10-20 名具有护理经验的医疗保健提供者然后，我们将开发和完善一个为家庭提供服务的多媒体网络平台。带有有关基因治疗的信息工具包，其中包括我们的儿科基因治疗支持工具作为该目标（目标 2）的一部分，实现以患者为中心的质量改进项目的目标：采访将被录音、逐字转录，并由一个专家使用语义内容分析进行分析。我们将使用经过验证的工具并遵循国际标准。这些工具将通过完善的方法进行迭代开发和完善。我们的研究团队计划与 Booster Shot Media 公司合作进行 alpha 和 beta 测试。在创建以患者为中心的内容以供研究人员和学术医疗中心进行交流方面拥有丰富的经验该项目具有创新性，将填补患者与提供者之间的重要空白。一旦最终确定，这将是第一个（据我们所知）关于儿科疾病基因治疗的交流。为患有罕见疾病的儿童的父母提供经过验证、基于证据的决策支持工具包适合接受基因治疗。