Key goals are to establish the natural history of limb-girdle muscular dystrophy type 2I (LGMD 2I) and identify feasible and sensitive tools and biomarkers to measure disease affection and progression, determine the Norwegian LGMD 2I prevalence, carrier frequency and genotypes, and to assess health-related quality of life in the Norwegian LGMD 2I population. Main aims are to facilitate future clinical trials and contribute to good clinical practice with suitable methodology and to complete health and social care in order to optimize the function and quality of daily living of the patient group.
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Echo intensity of muscles
Timeframe: Baseline and 2 years
Muscle thickness
Timeframe: Baseline and 2 years
Age at important disease stages
Timeframe: Retrospective data collection at baseline
Rate of symptom progression
Timeframe: Retrospective data collection at baseline
Prevalence of recognized cardiomyopathy
Timeframe: Retrospective data collection at baseline
Prevalence of initiated ventilation support
Timeframe: Retrospective data collection at baseline
Motor task performance
Timeframe: Baseline and 2 years
Disease-specific health-related quality of life (HRQOL)
Timeframe: Baseline, at 6 months, 1 year
Echocardiography strain speckle-tracking
Timeframe: Baseline and 2 years
Nocturnal arterial carbon dioxide (CO2)-level
Timeframe: Baseline
MRI
Timeframe: At 2 years