A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

NCT ID: NCT04989751

Last Updated: 2023-10-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

450 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-07-07

Study Completion Date

2026-12-01

Brief Summary

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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

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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

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LGMD LGMDR2 LGMDR1

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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LGMD patients

Electromyography

Intervention Type DIAGNOSTIC_TEST

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

IDEAL MRI

Intervention Type DIAGNOSTIC_TEST

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.

Interventions

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Electromyography

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

Intervention Type 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.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

10 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Huashan Hospital

OTHER

Sponsor Role lead

Responsible Party

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Chongbo Zhao

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Chongbo Zhao, PhD

Role: STUDY_DIRECTOR

Huashan Hospital

Locations

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Huashan Hospital

Shanghai, , China

Site Status

Countries

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China

Other Identifiers

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KY2019-409

Identifier Type: -

Identifier Source: org_study_id

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