Study to Understand Nemaline Myopathy Disease Progression and Genetics in Patients in Spain

What this Trial Is About

This research aims to understand the progression and clinical features of nemaline myopathies by establishing a detailed patient group in Spain. It looks to identify the specific genes and mutations involved, explore the relationship between symptoms and genetics, and describe how the disease develops without treatments that change its course. The study also seeks to find reliable markers and measurements for future clinical trials and align Spanish research with international efforts. Participants will undergo various assessments, including muscle ultrasound to evaluate muscle condition, motor function tests using several standard scales, and complete physical exams focusing on muscle strength and joint measurements. Additional evaluations include respiratory, cardiac, nutritional, and quality of life assessments, as well as video recordings to analyze movement in detail. These tests will be collected both retrospectively and prospectively over an average of five years. During the study, participants will be regularly monitored through clinical data collection, functional tests, and respiratory evaluations to observe changes over time. Researchers will track muscle condition by ultrasound and assess motor function using tools like CHOP-INTEND and the Motor Function Measure. The study will also observe respiratory function, nutritional status, and quality of life changes. This long-term follow-up aims to provide comprehensive information about the natural course of nemaline myopathies.

Natural History Study for Patients With Nemaline Myopathy in Spain