Craniofacial microsomia: Accelerating Research and Education (CARE)

项目概要/摘要 颅面矮小症（CFM）是第三常见的先天性颅面疾病， 涉及面部结构的发育不足，包括耳朵（例如，小耳畸形）和颌（例如，下颌 发育不全）。CFM患者有复杂的医疗保健需求，经常需要协调的 评估和干预措施，以优化听力，神经发育，呼吸，并尽量减少 颅外畸形我们建立了一个受基督教友谊运动影响的个人国际社区， 医疗保健提供者和倡导领导者，以促进CFM的研究。我们目前正在进行一个大型的， 我们正在探索CFM患者的生活经历，并探索 这一人群的医疗保健和心理社会经验。我们正在收集多角度数据， 英语和西班牙语的CFM患者及其护理人员通过治疗途径。 2023年初，NIH对NIH资助的研究引入了新的数据共享要求。数据共享允许 研究人员最大限度地利用现有数据来回答重要的研究问题。但我们 缺乏来自颅面社区的关于利益相关者对共享临床 用于研究的表型数据。这是一个重要的问题，特别是对参与者罕见的和可见的 条件从道德的角度来看，制定反映参与者生活的指导方针至关重要。 经验和价值观。据我们所知，这还没有在个人与颅面条件 用于共享表型数据。我们建议推进临床数据共享方面的知识 颅面研究通过解决以下具体目标：目标1。探索患者和护理人员 颅面研究数据共享的前景。目标2.综合经验数据和伦理 规范，以产生在以病人为导向的颅面研究的数据共享的建议。作为其中的一部分 根据该提案，我们成立了一个由多个利益相关者组成的数据共享伦理委员会， 该小组将编写一份手稿，阐述数据共享的考虑因素， 颅面研究这一生物伦理学研究提案将增加现有的证据基础， 参与者偏好在具有可见条件的个体中进行数据共享。

Project Summary/Abstract Craniofacial microsomia (CFM) is the third most common congenital craniofacial condition and typically involves underdevelopment of the facial structures, including the ear (e.g., microtia) and jaw (e.g., mandibular hypoplasia). Individuals with CFM have complex healthcare needs and frequently require a coordinated evaluations and interventions to optimize hearing, neurodevelopment, breathing, and minimize the impact of extra-cranial malformations. We have established an international community of individuals affected by CFM, healthcare providers, and advocacy leaders to facilitate research in CFM. We are currently conducting a large, international study in which we are exploring the lived experiences of individuals with CFM and exploring the healthcare and psychosocial experiences of this population. We are collecting multi-perspective data from English and Spanish speaking individuals with CFM and their caregivers across the treatment pathway. Early in 2023, NIH introduced new data sharing requirements for NIH-funded studies. Data sharing allows investigators to maximize the usefulness of existing data to answer important research questions. However, we lack information from the craniofacial community regarding stakeholder preferences about sharing of clinical phenotypic data used for research. This is an important issue especially for participants with rare and visible conditions. From an ethical perspective, it’s critical to develop guidelines that reflect participants lived experiences and values. To our knowledge, this has not been done in individuals with craniofacial conditions for sharing of phenotypic data. We propose to advance knowledge regarding data sharing in clinical craniofacial research by addressing the following specific aims: Aim 1. Explore patient and caregiver perspectives on research data sharing for craniofacial research. Aim 2. Synthesize empirical data and ethical norms to produce recommendations for data sharing in patient-oriented craniofacial research. As part of this proposal, we have established a CARE Ethics of Data Sharing Committee composed of multiple stakeholders, and this group will produce a manuscript addressing considerations for data sharing for patient-oriented craniofacial research. This bioethics research proposal will add to the existing evidence base regarding participant preferences for data sharing in individuals with visible conditions.