Neurology, Peking University Third Hospital, Beijing, China.
Neurology, Beijing Hospital, Beijing, Beijing, China.
BMJ Open. 2020 Dec 4;10(12):e042603. doi: 10.1136/bmjopen-2020-042603.
Amyotrophic lateral sclerosis (ALS) is a representative rare disease characterised by progressive, fatal motor neuron degeneration. Due to the unknown aetiology and variability of the phenotypes, there are no accurate reports concerning the epidemiology or clinical characteristics of the disease. The low prevalence, as previously reported, makes it difficult to carry out studies with large samples. The aim of this study was to explore the natural history and clinical features of ALS in mainland China through a multicentre, prospective cohort study. The findings will both offer a better understanding of ALS and also support the development of a model to study other rare diseases.
Patients from 88 representative hospitals in different parts of mainland China will be recruited through a specially designed online data system (http://www.chalsr.net/). We aim to recruit 4752 ALS patients over a 3-year period. Baseline data will be recorded, and follow-up data will be collected every 3 months. The primary outcome is effective survival. Overall survival and indices of disease progression will be measured as the secondary outcomes.
Ethical approval has been obtained from the ethics committee of Peking University Third Hospital (M2019388). Informed written consent will be obtained from each participant. Dissemination of the study protocol and data will take place primarily through a specially designed online data system (http://www.chalsr.net/). The collective results of the study will be published in peer-reviewed journals and shared in scientific presentations.
NCT04328675.
肌萎缩侧索硬化症（ALS）是一种以进行性、致命性运动神经元退行性变为特征的代表性罕见疾病。由于病因不明和表型的可变性，目前尚无关于该病流行病学或临床特征的准确报道。此前的低患病率报告使得难以进行大样本研究。本研究旨在通过多中心、前瞻性队列研究探讨中国大陆地区 ALS 的自然史和临床特征。研究结果将有助于更好地了解 ALS，并支持建立研究其他罕见疾病的模型。
将通过专门设计的在线数据系统（http://www.chalsr.net/）从中国大陆不同地区的 88 家代表性医院招募患者。我们的目标是在 3 年内招募 4752 名 ALS 患者。将记录基线数据，并每 3 个月收集一次随访数据。主要结局是有效生存。总体生存和疾病进展指标将作为次要结局进行测量。
本研究已获得北京大学第三医院伦理委员会的批准（M2019388）。将从每位参与者处获得知情书面同意。研究方案和数据的传播将主要通过专门设计的在线数据系统（http://www.chalsr.net/）进行。该研究的集体结果将发表在同行评议的期刊上，并在科学会议上进行分享。
NCT04328675。
