A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Electromyography, IDEAL MRI.
- Who it may be relevant to
- Registry conditions: LGMD, LGMDR2, LGMDR1. Basic parameters: from 10 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
Overview
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
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.
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.
Primary outcome measures
- Changes in NSAA score [Time frame: Baseline, Year 1, Year 3, Year 5]
Secondary outcome measures (3)
- Changes in muscle fat infiltration [Time frame: Baseline, Year 3, Year 5]
- Changes in 6 Minute Walk Test [Time frame: Baseline, Year 3, Year 5]
- Changes in 10 Metre Walk Test (10MWT) [Time frame: Baseline, Year 3, Year 5]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- Huashan Hospital — Shanghai
Identifiers
NCT: NCT04989751 · KY2019-409