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A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04989751
Recruitment Status : Enrolling by invitation
First Posted : August 4, 2021
Last Update Posted : August 4, 2021
Sponsor:
Information provided by (Responsible Party):
Chongbo Zhao, Huashan Hospital

Study Description
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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
LGMD LGMDR2 LGMDR1 Diagnostic Test: Electromyography Diagnostic Test: IDEAL MRI

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
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 350 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
Actual Study Start Date : July 7, 2021
Estimated Primary Completion Date : July 1, 2024
Estimated Study Completion Date : December 1, 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort 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
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Primary Outcome Measures :
  1. Change in mobility [ Time Frame: 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 :
  1. Change in muscle fat infiltration [ Time Frame: 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.

  2. Change in motor performance [ Time Frame: 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


Biospecimen Retention:   Samples With DNA
Muscle tissue from biopsy, stored in -80 °C freezer

Eligibility Criteria
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Ages Eligible for Study:   10 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
The patients are mainly from neuromuscular diagnostic centers that participat this study in China.
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
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04989751


Locations
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China
Huashan Hospital
Shanghai, China, 200040
Sponsors and Collaborators
Huashan Hospital
Investigators
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Study Director: Chongbo Zhao, PhD Huashan Hospital
More Information
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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Responsible Party: Chongbo Zhao, Professor, Huashan Hospital
ClinicalTrials.gov Identifier: NCT04989751    
Other Study ID Numbers: KY2019-409
First Posted: August 4, 2021    Key Record Dates
Last Update Posted: August 4, 2021
Last Verified: August 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Chongbo Zhao, Huashan Hospital:
Observational