LGMD, LGMDR1, LGMDR2
Conditions
Keywords
Observational
Brief 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.
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_TESTElectromyography
Electromyography (EMG) would be used at the baseline for dignoisis and furtue analysis.
DIAGNOSTIC_TESTIDEAL 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
Huashan Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
10 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Changes in NSAA score | 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
| Measure | Time frame | Description |
|---|---|---|
| Changes in muscle fat infiltration | 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. |
| Changes in 6 Minute Walk Test | 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. |
| Changes in 10 Metre Walk Test (10MWT) | 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 |
Countries
China
Outcome results
None listed