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Enrolling by Invitation

NCT Number: NCT04989751

A Multicenter Phenotype-Genotype Analysis of LGMD 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.

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Key information

Conditions

LGMD LGMDR1 LGMDR2 Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy, type 2B

Age range

10 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Huashan Hospital

Shanghai, 200040, China

About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Electromyography

Diagnostic Test

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

IDEAL MRI

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.

Primary outcomes

  1. 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.

Secondary outcomes

  1. 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.

  2. 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.

  3. 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

Sponsors and collaborators

Lead sponsor

Huashan Hospital

Other

Registry information

Official study title

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

Important dates

Study start
2021
Primary completion
2026
Study completion
2026
First posted
Aug 4, 2021
Registry last updated
Oct 24, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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