Progressive Muscular Dystrophy and Cardiac Involvement
Conditions
Interventions
the DMD patient group:None
healthy control group:None
Sponsors
Children's Hospital of Chongqing Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. DMD Patient Group: (1) Diagnosis: Children diagnosed with Duchenne Muscular Dystrophy (DMD) based on clinical features and genetic testing (e.g., MLPA or high-throughput sequencing); (2) Clinical Records: Possession of relatively complete clinical follow-up records within the past six months, including but not limited to motor function assessments (e.g., North Star Ambulatory Assessment), cardiac function evaluations (echocardiography, ECG), etc.; (3) Informed Consent: Legal guardians fully understand the study's purpose, methods, and potential risks, and voluntarily sign the written informed consent form. 2. Healthy Control Group: (1) Health Status: Healthy male individuals confirmed by medical history inquiry and necessary physical examinations; (2) Age Matching: Age-matched with the DMD patient group; (3) No Family History of Muscle Diseases: No personal or family history of neuromuscular diseases (especially muscular dystrophy); (4) Informed Consent: Legal guardians fully understand the study purpose and voluntarily sign the written informed consent form, and the volunteer's oral assent is also obtained whenever possible.
Exclusion criteria
Exclusion criteria: 1. DMD Patient Group: (1) Presence of genetic abnormalities other than DMD gene mutations; (2) Severe systemic diseases: such as severe congenital heart disease, liver or kidney failure, active autoimmune diseases, hematological disorders, etc.; (3) Recent severe infectious diseases; (4) Blood-transmitted infectious diseases: such as HIV/AIDS, Hepatitis B (HBV-DNA positive), Hepatitis C (HCV-RNA positive), etc. 2. Healthy Control Group: (1) Acute or chronic diseases and blood-transmitted infectious diseases; (2) Recent infections or medication use; (3) History of major trauma, surgery, or blood donation within 3 months prior to enrollment.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Induced Pluripotent Stem Cell; | — |
Secondary
| Measure | Time frame |
|---|---|
| iPSC line establishment success rate; | — |
Countries
China
Contacts
Public ContactSiqi Hong
Children's Hospital of Chongqing Medical University
Outcome results
None listed