Infantile-Onset Pompe Disease (IOPD)
Conditions
Sponsors
Children's Hospital, Zhejiang University School of Medicine
Eligibility
Sex/Gender
All
Age
No minimum to 1 Years
Inclusion criteria
Inclusion criteria: 1. Age at enrollment <= 6 months, with no gender restrictions. 2. Confirmed diagnosis of infantile-onset Pompe disease (IOPD). 3. The legal guardian(s) is/are able to understand and willing to comply with the requirements and procedures of the study protocol, voluntarily agree(s) to participate, and has/have provided signed informed consent.
Exclusion criteria
Exclusion criteria: 1. Subjects with left ventricular ejection fraction 55 mmHg in room air, or arterial PCO2 > 40 mmHg in room air. 3. Presence of severe congenital anomalies unrelated to Pompe disease at the time of screening. 4. Presence of clinically significant organic diseases (excluding symptoms related to Pompe disease) at screening, including but not limited to cardiovascular, hepatic, pulmonary, neurological, or renal disorders of clinical relevance, or other medical conditions, severe concurrent illnesses, or special circumstances that, in the investigator's judgment, may interfere with study participation or potentially reduce survival rates. 5. Subjects who test positive for human immunodeficiency virus (HIV) antibodies, hepatitis C virus antibodies, *Treponema pallidum* antibodies, or hepatitis B virus surface antigen at screening, or those considered at high risk for reactivation. 6. Subjects in the acute phase of an infection at the time of screening, or those with unresolved acute or chronic respiratory infections within 2 weeks prior to enrollment. 7. Subjects with inadequately treated prior active tuberculosis infection, or those presenting with active tuberculosis or at risk of latent tuberculosis infection at the time of screening. 9. Subjects with a prior history of allergy to corticosteroids. 10. Subjects with a history of hypersensitivity reactions to the investigational drug, its excipients, or drugs of similar chemical classes. 11. Subjects with serum Anti-AAV9 neutralizing antibody titer >1:100 at the time of enrollment. 12. Subjects who are positive for serum Anti-GAA binding antibodies at the time of enrollment. 13. Subjects who have received any vaccination within 2 weeks prior to enrollment. 14. Subjects who have previously participated in other gene therapy-related clinical trials, or who have used other investigational drugs or medical devices within 30 days prior to screening, or within 5 half-lives of the investigational drug (whichever is longer). 15. Subjects deemed unsuitable for participation in the study for any reason, as assessed by the investigator, including medical or clinical conditions, or those with a potential risk of non-compliance with study procedures.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Breathing Support-Free Survival Rate; | — |
Secondary
| Measure | Time frame |
|---|---|
| Incidence rate of adverse events;Overall survival rate;Survival rate with non-invasive respiratory support; | — |
Countries
China
Contacts
Public ContactYiying Zhang
Children's Hospital, Zhejiang University School of Medicine
Outcome results
None listed