Long-Term Data Collection Study for Patients with 5q Spinal Muscular Atrophy in Spain Observational Follow-Up of Treated and Untreated Patients Using Real-World Clinical Practices

What this Trial Is About

This research aims to collect long-term data from patients with Spinal Muscular Atrophy SMA in Spain to better understand the disease in a real-world setting. It is an observational, multicenter, non-randomized study that follows both treated and untreated patients according to routine clinical practice. The study seeks to standardize and unify the data collection process for SMA patients, focusing on motor and functional outcomes over time. Patients with SMA will be followed regularly based on standard care guidelines. Those receiving disease-modifying treatments DMTs will have motor outcomes recorded every six months, while untreated patients will be assessed at least once a year. The initial follow-up period is planned for at least five years, with possible extension depending on study funding. The study collects pseudo-anonymized data including genetic test results, clinical diagnoses, treatment history, and various outcome measures without affecting clinical care decisions. Participants motor and functional status will be evaluated yearly using several standardized scales such as WHO, CHOP INTEND, HFMSE, RULM, and the 6-minute walk test. Additional clinical features like mechanical ventilation use, nutrition support, scoliosis, neurodevelopment, and treatment sequences will also be monitored annually. Data collection aligns with routine clinical visits, and participation does not change treatment or visit schedules. The study excludes data collected during any clinical trial unless permission is granted, and data may continue to be collected after clinical trial participation ends.

CuidAME: Longitudinal Data Collection From Patients With Spinal Muscular Atrophy in Spain