A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

Condition(s) studied

Investigational drug(s) / intervention(s)

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.

Study 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.

Eligibility

Primary outcome measure(s)

• Changes in NSAA score — Baseline, Year 1, Year 3, Year 5
  The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale with a score range of 0-34. It is used to measure the functional motor abilities of ambulant patients with muscular dystrophy. A lower NSAA score indicates more severe damage to the participant's motor capability.

Trial sites (1)

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