A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- LGMD
- Sponsor
- Huashan Hospital
- Enrollment
- 450
- Locations
- 1
- Primary Endpoint
- Changes in NSAA score
- Status
- Enrolling By Invitation
- Last Updated
- 2 years ago
Overview
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.
Investigators
Chongbo Zhao
Professor
Huashan Hospital
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
Outcomes
Primary Outcomes
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
- Changes in muscle fat infiltration(Baseline, Year 3, Year 5)
- Changes in 10 Metre Walk Test (10MWT)(Baseline, Year 3, Year 5)
- Changes in 6 Minute Walk Test(Baseline, Year 3, Year 5)