Craniofacial microsomia: Accelerating Research and Education (CARE)

项目摘要/摘要 头面部矮小(CFM)是第三种最常见的先天性头面部疾病，通常 涉及面部结构发育不足，包括耳朵(如小耳)和下巴(如下颌 发育不全)。患有CFM的患者有复杂的医疗需求，并且经常需要协调 评估和干预以优化听力、神经发育、呼吸，并将影响降至最低 颅外畸形。我们已经建立了一个受CFM影响的个人的国际社区， 医疗保健提供者和倡导领袖，以促进CFM的研究。我们目前正在进行一项大型的， 在国际研究中，我们正在探索患有CFM的个人的生活经验，并探索 这一人群的医疗保健和心理社会体验。我们正在从以下方面收集多角度的数据 会说英语和西班牙语的CFM患者和他们的照顾者在治疗过程中。 2023年初，NIH为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回答重要的研究问题。然而，我们 缺乏来自颅面社区的有关利益相关者分享临床信息的偏好的信息 用于研究的表型数据。这是一个重要的问题，特别是对于那些罕见和可见的参与者来说 条件。从伦理的角度来看，制定反映参与者生活状况的指导方针至关重要 体验和价值观。据我们所知，在患有颅面部疾病的人中还没有这样做。 用于共享表型数据。我们建议提高临床数据共享方面的知识 通过解决以下具体目标进行头面部研究：目标1.探索患者和照顾者 颅面研究中研究数据共享的前景。目标2.综合经验数据和伦理 为面向患者的颅面研究中的数据共享提供建议的规范。作为这项工作的一部分 建议，我们已经建立了一个由多个利益相关者组成的数据共享关怀道德委员会， 该小组将编写一份手稿，阐述以患者为中心的数据共享的考虑 颅面研究。这项生物伦理学研究提案将增加现有的证据基础， 参与者对具有可见条件的个人共享数据的偏好。

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.