Presence of biallelic ASAH1 mutations confirmed by genetic testing, with a clinical diagnosis of acid ceramidase deficiency (SMA-PME or Farber disease).
Conditions
Interventions
Experimental group:AAV-ASAH1 Injection
Sponsors
Henan Provincial People's Hospita,medical
Eligibility
Sex/Gender
All
Age
2 Years to 18 Years
Inclusion criteria
Inclusion criteria: 1.Presence of biallelic ASAH1 mutations confirmed by genetic testing, with a clinical diagnosis of acid ceramidase deficiency (SMA-PME or Farber disease); 2.Age range: 2 to 18 years; 3.Expected survival time >= 6 months; 4.The subject, or the subject’s legal guardian, is able to communicate effectively, is willing to participate in the clinical trial, and has provided written informed consent; 5.Adequate hematologic and organ function;
Exclusion criteria
Exclusion criteria: 1.In an end-stage condition or at extremely high risk of death; 2.Serum AAV neutralizing antibody titer > 1:2000; 3.Subjects with severe cardiovascular disease, severe hepatic or renal dysfunction, coagulation abnormalities, sepsis, severe immunosuppression, leukemia, HIV infection, or other serious systemic diseases that may significantly affect health, or with any other contraindications to treatment or inability to tolerate treatment; 4.Subjects with severe cognitive impairment or unstable psychiatric disorders (such as major depression, severe anxiety disorder, or schizophrenia); 5.Subjects deemed unsuitable for participation by the investigator for any other reason
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Dose-limiting toxicity (DLT);Adverse events; | — |
Secondary
| Measure | Time frame |
|---|---|
| Treatment efficacy;Biochemical parameters; | — |
Countries
China
Contacts
Public ContactMeiyun Wang
Henan Provincial People's Hospita,medical
Outcome results
None listed