NCT04989751

A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 450 (estimated)
• Sponsor: Huashan Hospital · Academic / Other
• Sex: All
• Age: 10 Years
• Healthy volunteers: —

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.

Detailed description

This is multicentered-based, prospective, and observational study, which mainly focuses on the diagnosis and progression of limb-girdle muscular dystrophies (LGMD) in China. the investigators collect patient data including basic information, strength evaluations, genetic data, electromyography results, pathology imaging from muscle biopsies, and MRIs. Previously collected patient data may also be enrolled in this study.

Conditions

• LGMD
• LGMDR2
• LGMDR1

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Electromyography	Electromyography (EMG) would be used at the baseline for dignoisis and furtue analysis.
DIAGNOSTIC_TEST	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.

Timeline

• Start date: 2021-07-07
• Primary completion: 2026-07-01
• Completion: 2026-12-01
• First posted: 2021-08-04
• Last updated: 2023-10-24

Locations

1 site across 1 country: China