Potential of Register-Based Studies to Investigate Rare Diseases Example of the First German Population-Based Amyotrophic Lateral Sclerosis Registry
Potential of Register-Based Studies to Investigate Rare Diseases Example of the First German Population-Based Amyotrophic Lateral Sclerosis Registry
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DOI：
10.1055/s-0031-1301340
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发表时间：
2012-02-01
影响因子：
--
通讯作者：
Ludolph, A. C.
中科院分区：
文献类型：
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作者：
Nagel, G.;Rosenbohm, A.;Ludolph, A. C.
由于病例数少，罕见病对临床和流行病学研究是一个挑战。疾病登记是调查疾病原因和评估诊断和治疗程序的重要组成部分。以肌萎缩性侧索硬化症（ALS）为例，说明疾病登记作为罕见病跨学科研究的有效流行病学方法的潜力。在斯瓦本ALS登记处，我们在一项基于人群的病例对照研究中调查了潜在的危险因素，如身体活动、运动、头部损伤和代谢因素。我们的目的是阐明潜在的病理生理机制和发现新的治疗策略。
Because of the small case numbers, rare diseases are a challenge for clinical and epidemiological research. Disease registries are an important component to investigate causes of disease and to appraise diagnostic and therapeutic procedures. Based on the example of amyotrophic lateral sclerosis (ALS) we illustrate the potential of disease registries as an efficient epidemiological approach for interdisciplinary research on rare diseases. In the ALS registry Swabia, we investigate potential risk factors such as physical activity, sports, head injuries, and metabolic factors in a population-based case-control study. We aim to elucidate the underlying pathophysiological mechanisms and to detect new therapeutic strategies for ALS.