Pompei disease
Conditions
Interventions
1-5 years old:Gc301 adeno-associated virus injection
6-18 years old:Gc301 adeno-associated virus injection
Sponsors
The First Medical Center of PLA General Hospital
Eligibility
Sex/Gender
All
Age
1 Years to 18 Years
Inclusion criteria
Inclusion criteria: 1. Age>1, <= 18, regardless of gender; 2. The patient developed Pompeii disease symptoms after 12 months of age, and was diagnosed as late onset Pompeii disease (LOPD) according to the analysis of GAA gene variation, GAA enzyme activity and clinical manifestations; 3. No enzyme replacement therapy (ERT) was used 2 weeks before enrollment; 4. Subjects had significant muscle weakness; 5. The motor function can be evaluated; 6. Subjects and legal guardians can understand and are 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. 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; 3. Fever or respiratory tract infection occurred within two weeks before enrollment, and vomiting and diarrhea occurred within 24 hours before enrollment; 4. Those who received immunomodulator (except inhaled glucocorticoid) treatment within 90 days before screening; 5. Serious adverse reactions caused by previous use of glucocorticoid; 6. Serum anti AAV9 neutralizing antibody titer > 1:200; 7. Those who have participated in/are participating in other clinical trials of gene therapy; 8. Other situations that the investigator thinks are not suitable to participate in this clinical trial.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change from baseline in 6-minute walk test (6MWT);Total percentage change in gross motor function-88 (gmfm-88) compared to baseline;Changes in left ventricular mass (LVM) Z score compared to baseline; | — |
Secondary
| Measure | Time frame |
|---|---|
| Overall survival and survival with noninvasive ventilator use;Changes in MMT unarmed muscle strength rating scale scores compared with baseline;Proportion of patients who stabilized or improved at 52 weeks (i.e. no clinical deterioration);New invasive/non-invasive ventilator dependence;Changes of infant tidal respiratory function compared with baseline;Changes in forced vital capacity (FVC) compared with baseline; | — |
Countries
China
Contacts
Public ContactYang Guang
The First Medical Center of PLA General Hospital
Outcome results
None listed