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A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

NCT04989751 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 450

Last updated 2023-10-24

No results posted yet for this study

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.

Conditions

  • LGMD
  • LGMDR2
  • LGMDR1

Interventions

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.

Sponsors & Collaborators

  • Huashan Hospital

    lead OTHER

Principal Investigators

  • Chongbo Zhao, PhD · Huashan Hospital

Eligibility

Min Age
10 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-07-07
Primary Completion
2026-07-01
Completion
2026-12-01

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04989751 on ClinicalTrials.gov