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A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China
Sponsor: Huashan Hospital
Summary
Limb-girdle muscular dystrophies (LGMD) are a series of rare progressive genetic disorders that are characterized by wasting and weakness of the voluntary proximal muscles. The onset of the disease is usually at young age, and most patients will be wheelchair-bound due to the progressive deterioration. Since currently genetic therapies for this disease are still immature, better natural history and genotype-phenotype studies are needed for preparing future therapies.
Official title: A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
Key Details
Gender
All
Age Range
10 Years - Any
Study Type
OBSERVATIONAL
Enrollment
450
Start Date
2021-07-07
Completion Date
2026-12-01
Last Updated
2023-10-24
Healthy Volunteers
Not specified
Interventions
Electromyography
Electromyography (EMG) would be used at the baseline for dignoisis and furtue analysis.
IDEAL MRI
Muscle-speciifc sequences (e.g. IDEAL) would be used to scan patients at baseline and follow-up stages to characterize the fat fraction and atrophy in different muscles.
Locations (1)
Huashan Hospital
Shanghai, China