The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
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Observe changes in muscle echogenicity by muscle ultrasound.
Timeframe: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
Timeframe: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)
Timeframe: Change from baseline through study completion, an average of 5 years
Observe natural history changes in Peabody Developmental Motor Scales (PDMS-3) Scale Score
Timeframe: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the Motor Function Measure (MFM32) Scale Score
Timeframe: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the North Star Ambulatory Assessment (NSAA) score
Timeframe: Change from baseline through study completion, an average of 5 years
Observe natural history changes in the Performance of Upper Limb (PUL) score
Timeframe: Change from baseline through study completion, an average of 5 years