Neonatal Patients with Infantile Pompe Disease
Conditions
Interventions
Experimental group:GC301 Adenovirus Injection
Sponsors
The Seventh Medical Center of the PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Age =28 days at enrollment, gender not restricted; 2. The infant is diagnosed with infantile Pompe disease through prenatal diagnosis or newborn screening; 3. The guardian is capable of understanding and willing to comply with the study protocol requirements and procedures, voluntarily participates, and signs the informed consent form
Exclusion criteria
Exclusion criteria: 1. Improved Ross heart failure grading assessment suggests the presence of moderate to severe heart failure; 2. ALT and AST detection values are more than 3 times the normal value, and ALP detection values are more than 2 times the normal value (excluding Pompeii related liver injury). 3. The subject has severe organ dysfunction, such as liver and kidney failure (liver failure: liver failure syndrome may occur, including fatigue and severe gastrointestinal symptoms; prolonged prothrombin time and prothrombin activity less than 40% were found during clinical examination; hepatic encephalopathy, presenting neuropsychiatric symptoms such as restlessness, changes in personality and behavior, drowsiness, coma, etc.; toxic megacolon, ascites, multiple organ dysfunction, etc.); bilirubin levels exceeding 171 µ mol/L and hypoalbuminemia were detected in liver function tests. Renal failure: creatinine exceeding 110 µ mol/L, or glomerular filtration rate below 100mL/min), congenital/acquired encephalopathy, etc; 4. Congenital absence of organs; 5. Primary immunodeficiency; 6. Prior to enrollment, screen patients whose mothers are positive for IgM antibodies against human immunodeficiency virus (HIV), hepatitis C virus, Treponema pallidum, and hepatitis B virus antigen; 7. Before enrollment, screening for anti-AAV9 neutralizing antibody titers>1:100; 8. Individuals with respiratory or non respiratory infections present; 9.Researchers believe that it may interfere with the research protocol or be unsuitable for participants in this clinical trial.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety evaluation indicators;Effectiveness evaluation indicators; | — |
Secondary
| Measure | Time frame |
|---|---|
| Survival rate of subjects without respiratory support at 12 months of age;Changes in left ventricular ejection fraction (LVEF) within 52 weeks after administration;Changes in left ventricular mass index (LVMI) compared to baseline 52 weeks after administration;Acquisition of WHO Motor Development Milestones (WHO-MGRS) within 52 weeks after administration;Changes in HINE-2 exercise milestone assessment compared to baseline 52 weeks after administration;Changes in blood GAA enzyme activity after administration; | — |
Countries
China
Contacts
Public ContactZhichun Feng
The Seventh Medical Center of the PLA General Hospital
Outcome results
None listed