Ignite Creation Date:
2025-12-24 @ 11:41 PM
Ignite Modification Date:
2025-12-28 @ 2:27 AM
Study NCT ID:
NCT04989751
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2023-10-24
First Post:
2021-08-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China
Sponsor:
Huashan Hospital
Organization:
Study Overview
Official Title:
A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
Status:
ENROLLING_BY_INVITATION
Status Verified Date:
2023-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: