在阿德罗普拉西亚的现实世界证据:对标准化数据集的考虑
Yasemin Alanay1, Klaus Mohnike2, Ola Nilsson3,4,5
1Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Kayisdagi Cad. No:32, Atasehir, 34684, Istanbul, Turkey. yasemin.alanay@acibadem.edu.tr.
Orphanet journal of rare diseases
|June 26, 2023
概括
建立一个标准化的国际记忆录,以记忆录 (一种罕见的遗传性疾病) 对于收集高质量的现实世界证据 (RWE) 至关重要,以改善患者的护理和对这种疾病的理解.
科学领域:
- 医学研究 医学研究
- 罕见疾病研究研究.
- 在医疗保健中的数据科学.
背景情况:
- 现实世界的证据 (RWE) 收集对于理解桃体增生症至关重要.
- 为了长期,高质量的数据捕获,需要一个有前景的国际数据资源.
- 这样的资源将增强对形质细胞瘤的自然史,生活质量和结果的知识.
研究的目的:
- 为了确定一个标准化的潜在的注册表的关键数据元素,为Achondroplasia.
- 为了促进对阿德罗普拉西亚的自然史和相关结果的研究.
- 为了改善临床决策和管理策略,阿多症患者.
主要方法:
- 成立了一个多学科委员会 (欧洲,中东和非洲骨质疏松症指导委员会).
- 该委员会由17名临床专家和3名患者倡导代表组成.
- 进行了一项实践,以确定未来注册表的基本数据元素.
主要成果:
- 目前对阿德罗普拉西亚的RWE收集在各中心的数据元素,方法和频率上各不相同.
- 数据收集的关键领域包括辅助学测量,睡眠研究,生活质量和神经表现.
- 登记册的基本数据被分为人口统计,诊断/测量,医疗问题,调查/手术,药物和治疗结果.
结论:
- 长期的,高质量的数据对于管理罕见和复杂的疾病,如骨髓质疏松症至关重要.
- 收集预定义数据元素的未来注册表将产生有价值的纵向信息.
- 可以建立一个可行的最小数据集,允许国家特定的标准和治疗方法的聚合数据分析.
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