A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

LGMD Clinical Trial

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT04989751
• Other study ID #: KY2019-409
• Status: Enrolling by invitation
• Start date: July 7, 2021
• Est. completion date: December 1, 2026

Study information

• Verified date: October 2023
• Source: Huashan Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 450
• Est. completion date: December 1, 2026
• Est. primary completion date: July 1, 2026
• Gender: All
• Age group: 10 Years and older

Eligibility

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

Related Conditions & MeSH terms

• LGMDR2

Intervention

Diagnostic Test:
• 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

Country	Name	City	State
China	Huashan Hospital	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Huashan Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes in NSAA score	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.	Baseline, Year 1, Year 3, Year 5
Secondary	Changes in muscle fat infiltration	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.	Baseline, Year 3, Year 5
Secondary	Changes in 6 Minute Walk Test	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.	Baseline, Year 3, Year 5
Secondary	Changes in 10 Metre Walk Test (10MWT)	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	Baseline, Year 3, Year 5