A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China
Launched by HUASHAN HOSPITAL · Aug 2, 2021
Trial Information
Current as of July 01, 2025
Enrolling by invitation
Keywords
ClinConnect Summary
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.
Gender
ALL
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
About Huashan Hospital
Huashan Hospital, affiliated with Fudan University in Shanghai, is a leading medical institution renowned for its commitment to innovative research and high-quality patient care. As a prominent clinical trial sponsor, Huashan Hospital leverages its extensive expertise in various medical disciplines to advance the development of new therapies and treatment modalities. The hospital's state-of-the-art facilities and multidisciplinary teams facilitate rigorous clinical investigations, ensuring adherence to ethical standards and regulatory compliance. With a focus on improving patient outcomes, Huashan Hospital actively collaborates with academic and industry partners to drive forward-thinking research initiatives that address critical healthcare challenges.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Shanghai, , China
Patients applied
Trial Officials
Chongbo Zhao, PhD
Study Director
Huashan Hospital
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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