Pompeii disease
Conditions
Interventions
treatment group:GC301 intravenous injection
Sponsors
The Seventh Medical Center of PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Aged < 6 months at the time of enrollment, regardless of gender; 2. Infantile Pompeii disease was definitely diagnosed according to GAA gene variation analysis, GAA enzyme activity analysis and clinical manifestations; 3. The guardian can understand and is willing to comply with the requirements and procedures of the research protocol, and voluntarily participate in and sign the informed consent form;
Exclusion criteria
Exclusion criteria: 1.Modified Ross Heart Failure (Pediatric) Grading System for Class 4 Heart Failure Patients; 2.Elevated ALT and AST levels greater than 3 times the upper limit of normal, and ALP levels greater than 2 times the upper limit of normal (excluding liver damage related to Pompe disease). 3.Subjects with severe organ dysfunction, such as liver and kidney failure (liver failure: the patient may present with hepatic failure syndrome, including fatigue, severe gastrointestinal symptoms; clinical examination reveals prolonged prothrombin time, prothrombin activity less than 40%; hepatic encephalopathy, the patient presents with neuropsychiatric symptoms, such as agitation, changes in personality and behavior, drowsiness, coma, etc.; the patient presents with toxic paralytic ileus, ascites, multi-organ dysfunction, etc.; liver function tests show bilirubin levels exceeding 171 µmol/L, hypoalbuminemia. Renal failure: creatinine levels exceeding 110 µmol/L, or glomerular filtration rate below 100 mL/min), congenital/acquired encephalopathy, etc. 4.Congenital absence of organs; 5.Primary immunodeficiency; 6.Prior to enrollment, screening for human immunodeficiency virus (HIV), hepatitis C virus, Treponema pallidum (syphilis) IgM antibodies, and hepatitis B virus antigen-positive individuals is required. 7.Subject with a history of hypersensitivity to glucocorticoids. 8.Subject who have previously been involved in other gene therapy-related clinical studies; 9.The investigator believes that the subject who may interfere with the study protocol is not suitable for participation in this clinical study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Adverse Events (AEs);Laboratory examination; | — |
Secondary
| Measure | Time frame |
|---|---|
| Survival of subjects;The proportion of subjects without respiratory support;LVEF value;blood CK, CK-MB, troponin I, and BNP/NT-proBNP;left ventricular posterior wall thickness at end-diastole, interventricular septal thickness at end-diastole, left ventricular mass, and left ventricular mass index;blood GAA enzyme activity;motor function scores (HINE); | — |
Countries
China
Contacts
Public ContactZhichun Feng
The Seventh Medical Center of PLA General Hospital
Outcome results
None listed