A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

NCT04989751 | Enrolling By Invitation

• 1 other identifier: KY2019-409
• Study Type: observational
• Target: 450
• Locations: 1 country
• Sites: 1

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.

Conditions

LGMD; LGMDR2; LGMDR1

Keywords

Observational

Outcome Measures

Primary Outcomes (1)

• Changes in NSAA score

  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.

  Baseline, Year 1, Year 3, Year 5

Secondary Outcomes (3)

• Changes in muscle fat infiltration

  Baseline, Year 3, Year 5

• Changes in 6 Minute Walk Test

  Baseline, Year 3, Year 5

• Changes in 10 Metre Walk Test (10MWT)

  Baseline, Year 3, Year 5

Study Arms (1)

LGMD patients

Diagnostic Test: Electromyography; Diagnostic Test: IDEAL MRI

Interventions

Electromyography DIAGNOSTIC_TEST

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

LGMD patients

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.

LGMD patients

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The patients are mainly from neuromuscular diagnostic centers that participat this study in China.

You may qualify if:

• 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

You may not qualify if:

• Identified with variants in other genes (non-LGMD related) that may cause muscular dystrophies

Sponsors & Collaborators

• Huashan Hospital: lead

Study Sites (1)

Huashan Hospital

Shanghai, 200040, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Muscle tissue was frozen with liquid nitrogen as soon as possible following excision and maintained at -80°C

MeSH Terms

Conditions

Limb-girdle muscular dystrophy, type 2B; Limb-girdle muscular dystrophy type 2A

Interventions

Electromyography

Intervention Hierarchy (Ancestors)

Electrodiagnosis; Diagnostic Techniques and Procedures; Diagnosis; Myography

Study Officials

• Chongbo Zhao, PhD

  Huashan Hospital

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 8 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: August 2, 2021
• First Posted: August 4, 2021
• Study Start: July 7, 2021
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 24, 2023

Record last verified: 2023-10

Locations

CN (1)