A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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. We 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.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| LGMD patients
|
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.
|
Outcome Measures
Primary Outcome Measures
- Change in mobility [Baseline, Year 1, Year 3]
The 6 Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity.
Secondary Outcome Measures
- Change in muscle fat infiltration [Baseline, Year 1, Year 3]
The muscle-specific fat fraction can be calculated with special MRI sequences such as IDEAL or Dixon in the region of interest. Our previous study found that the fat fraction of semitendinosus positively correlated with the length LGMD R1/R2 duration.
- Change in motor performance [Baseline, Year 1, Year 3]
The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale that is used to measure functional motor abilities in ambulant patients with Duchenne Muscular Dystrophy
Eligibility Criteria
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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Huashan Hospital | Shanghai | China | 200040 |
Sponsors and Collaborators
- Huashan Hospital
Investigators
- Study Director: Chongbo Zhao, PhD, Huashan Hospital
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- KY2019-409