De Carvalho Mamede, Ryczkowski Adam, Andersen Peter, Gromicho Marta, Grosskreutz Julian, Kuźma-Kozakiewicz Magdalena, Petri Susanne, Piotrkiewicz Maria, Miltenberger Miltenyi Gabriel
a Institute of Physiology, Instituto de Medicina Molecular, Faculty of Medicine , University of Lisbon , Lisbon , Portugal.
b Department of Neurosciences and Mental Health , Hospital de Santa Maria-CHLN , Lisbon , Portugal.
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):505-510. doi: 10.1080/21678421.2017.1349150. Epub 2017 Jul 13.
To define an applicable dataset for ALS patient registries we weighted specific clinical items as scored by worldwide ALS experts.
Sixty participants were invited based on relevant clinical work, publications and personal acquaintance. They rated 160 clinical items consensually agreed by the members of our project, incorporating specialists from five European Centres. Scoring scheme was defined as: 1 - essential; 2 - important; 3 - not very important. A mixed effect model was applied to rank items and to find possible correlations with geographical region (Europe vs. outside Europe).
We received 40 responses, 20 from Europe and 20 from outside; 42/160 data were scored as essential by >50% of the respondents, including: date of birth, gender, date of disease onset, date of diagnosis, ethnicity, region of onset, predominant upper neuron (UMN) or lower motor neuron (LMN) impairment, proximal versus distal weakness, respiratory symptoms, dysarthria, weight loss, signs of LMN/UMN involvement, emotional incontinence, cognitive changes, respiratory signs, neck weakness, body mass index, ALSFRS-R at entry, ALSFRS-R subscores at entry, timing and pattern of spreading and staging, electromyography, spirometry, MRI, CK level, riluzole intake, genetic background, history of physical exercise and previous and current main occupation. Four components were scored as non-relevant, including place of birth, blood pressure and pain at onset. There was no significant difference between regions (European vs. non-European countries).
Our study identified a consensual set of clinical data with 42 specific items that can be used as a minimal data set for patient registers and for clinical trials.
为肌萎缩侧索硬化症（ALS）患者登记处确定一个适用的数据集，我们对全球ALS专家评分的特定临床项目进行了加权。
根据相关临床工作、出版物和个人关系邀请了60名参与者。他们对我们项目成员（包括来自五个欧洲中心的专家）一致认可的160个临床项目进行了评分。评分方案定义为：1 - 必不可少；2 - 重要；3 - 不太重要。应用混合效应模型对项目进行排名，并找出与地理区域（欧洲与欧洲以外地区）的可能相关性。
我们收到了40份回复，其中20份来自欧洲，20份来自欧洲以外地区；42/160的数据被超过50%的受访者评为必不可少，包括：出生日期、性别、疾病发病日期、诊断日期、种族、发病地区、主要上运动神经元（UMN）或下运动神经元（LMN）损伤、近端与远端无力、呼吸症状、构音障碍、体重减轻、LMN/UMN受累体征、情感失禁、认知变化、呼吸体征、颈部无力、体重指数、入院时的ALSFRS-R、入院时的ALSFRS-R子评分、扩散和分期的时间及模式、肌电图、肺活量测定、MRI、CK水平、利鲁唑摄入情况、遗传背景、体育锻炼史以及既往和当前的主要职业。有四个项目被评为不相关，包括出生地、血压和发病时的疼痛。不同地区（欧洲国家与非欧洲国家）之间没有显著差异。
我们的研究确定了一组包含42个特定项目的共识临床数据，可作为患者登记和临床试验的最小数据集。
