A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

October 20, 2023 updated by: Chongbo Zhao, Huashan Hospital

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

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.

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

450

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
      • Shanghai, China, 200040
        • Huashan Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

10 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

The patients are mainly from neuromuscular diagnostic centers that participat this study in China.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
LGMD patients
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in NSAA score
Time Frame: 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.
Baseline, Year 1, Year 3, Year 5

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in muscle fat infiltration
Time Frame: 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.
Baseline, Year 3, Year 5
Changes in 6 Minute Walk Test
Time Frame: 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.
Baseline, Year 3, Year 5
Changes in 10 Metre Walk Test (10MWT)
Time Frame: 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
Baseline, Year 3, Year 5

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Huashan Hospital

Investigators

  • Study Director: Chongbo Zhao, PhD, Huashan Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 7, 2021

Primary Completion (Estimated)

July 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

August 2, 2021

First Submitted That Met QC Criteria

August 2, 2021

First Posted (Actual)

August 4, 2021

Study Record Updates

Last Update Posted (Actual)

October 24, 2023

Last Update Submitted That Met QC Criteria

October 20, 2023

Last Verified

October 1, 2023

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • KY2019-409

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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