Craniofacial microsomia: Accelerating Research and Education (CARE)

项目概要/摘要 颅面微小症 (CFM) 是第三种最常见的先天性颅面疾病，通常 涉及面部结构发育不全，包括耳朵（例如小耳症）和下颌（例如下颌骨） 发育不全）。患有 CFM 的个人具有复杂的医疗保健需求，并且经常需要协调一致 评估和干预措施，以优化听力、神经发育、呼吸，并最大限度地减少影响 颅外畸形。我们建立了一个由受 CFM 影响的个人组成的国际社区， 医疗保健提供者和倡导领袖促进 CFM 研究。我们目前正在进行一项大型的、 国际研究，我们正在探索 CFM 患者的生活经历，并探讨 该人群的医疗保健和社会心理经历。我们正在收集多角度的数据 患有 CFM 的英语和西班牙语人士及其整个治疗过程中的护理人员。 2023 年初，NIH 对 NIH 资助的研究提出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。然而，我们 缺乏来自颅面社区的有关利益相关者对共享临床数据的偏好的信息 用于研究的表型数据。这是一个重要的问题，特别是对于患有罕见和可见疾病的参与者来说 条件。从道德角度来看，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，尚未在患有颅面疾病的个体中进行过这项研究 用于共享表型数据。我们建议增进有关临床数据共享的知识 通过解决以下具体目标进行颅面研究： 目标 1. 探索患者和护理人员 对颅面研究研究数据共享的看法。目标 2. 综合经验数据和伦理数据 为以患者为导向的颅面研究中的数据共享提出建议的规范。作为本次活动的一部分 根据提案，我们建立了由多个利益相关者组成的 CARE 数据共享道德委员会， 该小组将撰写一份手稿，阐述以患者为中心的数据共享的考虑因素 颅面研究。该生物伦理学研究提案将增加有关以下方面的现有证据基础： 参与者对具有可见条件的个人的数据共享的偏好。

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.