Pompei disease
Conditions
Sponsors
The First Medical Center of PLA General Hospital
Eligibility
Sex/Gender
All
Age
1 Years to 6 Years
Inclusion criteria
Inclusion criteria: 1. Age > 1 year and <= 6 years, sex unrestricted; 2. Onset of Pompeii disease symptoms before 12 months of age, with a definitive diagnosis of infantile-onset Pompeii disease (IOPD) confirmed by GAA gene variant analysis, reduced GAA enzyme activity, and compatible clinical manifestations; 3. Receiving enzyme replacement therapy (ERT) without rapid disease progression; 4. Able to undergo motor-function assessments; 5. Legal guardian able to comprehend the study protocol, willing to comply with all procedures, and provides written informed consent for the participant’s enrollment.
Exclusion criteria
Exclusion criteria: 1. Organic diseases with clinical significance (except the symptoms related to late infantile Pompeii disease), including cardiovascular, pulmonary, liver, kidney or nervous system diseases with clinical significance, or other serious complications; 2. Those who need continuous invasive or non-invasive auxiliary ventilation for more than 16 hours per day; 3. Those who with severe non respiratory diseases requiring systemic treatment and/or hospitalization 2 weeks before screening 4. Upper or lower respiratory tract infections requiring antiviral or antibacterial treatment and/or hospitalization occurred within 4 weeks before enrollment; 5. Those who received immunomodulator (except inhaled glucocorticoid) treatment within 90 days before screening; 6. Serious adverse reactions caused by previous use of glucocorticoid; 7. Serum anti AAV9 neutralizing antibody titer > 1:100; 8. Those who have participated in/are participating in other clinical trials of gene therapy; 9. Other situations that the investigator thinks are not suitable to participate in this clinical trial.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Changes of Gross Motor Function-88 (GMFM-88) total percentage compared from baseline at week 52;Changes of left ventricular mass (LVM) Z-score of color Doppler echocardiography compared with baseline at week 52; | — |
Secondary
| Measure | Time frame |
|---|---|
| Overall survival and survival without respiratory support at week 52;Proportion of patients who stabilized or improved at 52 week (i.e. no clinical deterioration);Changes of tidal respiratory function in infants (<5 years old) compared with baseline at 52 week;Changes in the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND0 scores compared with baseline at 52 week; | — |
Countries
China
Contacts
Public ContactYang Guang
The First Medical Center of PLA General Hospital
Outcome results
None listed