retinoschisis
Conditions
Interventions
Intervention/Treatment:Intravitreal injection
Sponsors
Hanchuan People's Hospital
Eligibility
Sex/Gender
Male
Age
3 Years to 18 Years
Inclusion criteria
Inclusion criteria: Patients who met all of the following criteria were enrolled as subjects 1. Diagnosis of X-linked retinoschisis consistent with the presence of RS1 gene mutation; 2. Male, aged between 3 and 18 years old, in overall good health; 3. Capable of undergoing visual and retinal function assessment; 4. The visual acuity of the subject's eye was not better than: 0.4(68 ETDRS letter score). The eye with worse visual acuity was selected as the subject's eye. If both eyes have the same visual acuity, the choice of the subject's eye will be determined by the investigator in consultation with the participant. ETDRS vision is the primary vision criterion; 5. No carbonic anhydrase inhibitors have been used at present and for 3 months before treatment; 6. Laboratory tests meet the following criteria: Hemoglobin >= 11.0 g/dL White blood cell counts ranged from 3,300 to 12,000 cells /mm3 Platelet count 125,000-550,000 /mm3 Alanine aminotransferase (ALT) is not higher than 1.5 times the upper limit of the normal range of laboratory tests; Serum creatinine was no higher than 1.1 times the upper limit of the normal range for laboratory tests, Prothrombin time (PT)<=14.5 seconds, including partial thromboplastin time (PTT)=36.0 seconds; 7. Willing to discontinue aspirin, aspirin-containing products, and any other medications that may alter clotting function at least 7 days before dosing; 8. Signed informed consent before screening.
Exclusion criteria
Exclusion criteria: All subjects who met any of the following exclusion criteria before enrollment were excluded from the study: 1. Previously received any AAV gene therapy drug 2. The following mutations in RS1 gene :R141H, C59S or C223S 3. Pre-existing eye conditions that cause severe vision loss or increase the risk of intravitreal injections (e.g., advanced glaucoma, uveitis, or severe retinal detachment) 4. Ocular diseases in which there is opacity of the lens, cornea, or other media, hindering adequate observation and examination of the retina 5. Use anticoagulant or antiplatelet drugs within 7 days before dosing 6. Use any experimental drug within 3 months prior to registration 7. Any circumstance that causes the investigator to believe that the Subject will not comply with the requirements of the protocol or may place the Subject at unacceptable risk of participation.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Efficacy evaluation: the change degree of best corrected visual acuity and the change degree of macular OCT cleft cavity at the 7th day, 1st month and the end of February after drug administration;Evaluation of safety indicators: vital signs at the 7th day after administration, at the end of January and February, eye physical examination, and incidence of adverse events; | — |
Secondary
| Measure | Time frame |
|---|---|
| Changes in visual field and ERG at the end of the first and second months after drug administration;At the end of the 3rd, 4th, 6th, 9th, and December, the best corrected visual acuity, the degree of changes in macular OCT cleft cavity, the degree of changes in visual field, and the degree of changes in ERG;Evaluation of safety indicators: vital signs, eye physical examination, and incidence of adverse events at the end of the 3rd, 4th, 6th, 9th, and 12th month after drug administration;Anti-AAV neutralizing antibody titer, Anti-rs1 neutralizing antibody titers.; | — |
Countries
China
Contacts
Public ContactGuangtao Sun
Hanchuan People's Hospital
Outcome results
None listed