A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

• Conditions: LGMDR1; LGMDR2; LGMD
• Interventions: Diagnostic Test: Electromyography; Diagnostic Test: IDEAL MRI

• Registration Number: NCT04989751
• Lead Sponsor: Huashan Hospital

Brief 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.

Study Timeline

• Study Start: 2021-07-07
• Study First Submitted: 2021-08-02
• Study First Submitted QC: 2021-08-02
• Study First Posted: 2021-08-04
• Status Verified: 2023-10
• Last Update Submitted: 2023-10-20
• Last Update Posted: 2023-10-24
• Primary Completion: 2026-07-01
• Study Completion: 2026-12-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 450

Inclusion Criteria

• Identified with variants regarding LGMD related genes revealed by genetic sequencing
• Progressive weakness involving shoulder girdle and/or pelvic girdle
• Myopathic changes in electromyography or in pathological studies

Exclusion Criteria

• Identified with variants in other genes (non-LGMD related) that may cause muscular dystrophies

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
LGMD patients	IDEAL MRI	-
LGMD patients	Electromyography	-

Primary Outcome Measures

Name	Time	Method
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.

Secondary Outcome Measures

Name	Time	Method
Changes in muscle fat infiltration	Baseline, Year 3, Year 5	The muscle-specific fat fraction can be calculated with special MRI sequences such as IDEAL or Dixon in the region of interest. An deep-learning based tool is applied to segment individual muscles.
Changes in 10 Metre Walk Test (10MWT)	Baseline, Year 3, Year 5	The 10 Metre Walk Test is a performance measure used to assess walking speed in meters per second over a short distance. It can be employed to determine functional mobility, gait, and vestibular function
Changes in 6 Minute Walk Test	Baseline, Year 3, Year 5	The 6-Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered in 6 minutes serves as the outcome for comparing changes in performance capacity.

Trial Locations

Locations (1)

Huashan Hospital; 🇨🇳 Shanghai, China