Register for Medical Data, Functional Scales, and Care Outcomes in ALS, SMA, and Other Motor System Disorders

This is an ongoing, non-interventional patient registry that systematically and longitudinally collects routine-care data from people with amyotrophic lateral sclerosis, spinal muscular atrophy, and other motor system disorders. Historical, current, and prospective information is obtained from medical records, data collection forms completed by patients or health care professionals, and data exports from software applications used in routine care. Data voluntarily entered into mobile applications may be transferred only at the participant's request and with explicit consent. The applications themselves are not evaluated as part of the registry.

The registry includes a predefined core dataset that is collected routinely and additional optional variables. The data dictionary describes the variables, their measurement instruments, and whether they belong to the core or optional dataset. Data categories include demographic characteristics, diagnoses, disease onset and clinical features, functional measures, and information on assistive devices, therapeutic services, medication, respiratory and nutritional support, nursing care, patient experience, and satisfaction.

The registry operator is responsible for technical operation, data infrastructure, and compliance with data protection requirements. Data are stored and processed on a protected, encrypted server at Charité - Universitätsmedizin Berlin. Charité provides scientific oversight and is responsible for the study design, scientific quality assurance, and evaluation of registry data. Data used for statistical analyses are pseudonymized.

Quality assurance is performed by the registry operator. Registry data are regularly reviewed for completeness and plausibility, and identified inconsistencies are assessed and corrected or supplemented where appropriate. Data may be checked against source documents generated during routine care, including medical reports, physician letters, questionnaires, and electronic data exports. The available documents do not specify routine on-site monitoring, independent audits, third-party certification, or a formal source-data-verification rate.

Internal exploratory and descriptive analyses are performed at regular intervals and documented in status reports. These may include participant counts and summaries of the collected variables. Analyses addressing a specific scientific hypothesis require a formal registry-study application and are governed by the registry's data-use rules. No formal effect-based sample size calculation is specified because the registry is intended for ongoing data collection and does not have a predefined end date.

The available documents do not describe a separate statistical method for imputing missing data. The core and optional dataset structure permits variables that are not routinely available to remain unreported, while completeness and plausibility checks are used to identify missing, inconsistent, or out-of-range entries. The handling of missing data for a specific research question should be defined in the corresponding analysis plan.

Scientific publications based on registry data must follow good scientific practice and applicable reporting standards for observational research. The registry must be identified as the data source, and the registry operator must be informed about planned publications. Study-specific publications undergo peer review to support the quality, plausibility, and reproducibility of the findings.