inherited retinal dystrophy related to RLBP1 gene variations.
Conditions
Interventions
Low-dose group:Intravitreal injection of PUMCH-E111
High-dose group:Intravitreal injection of PUMCH-E111
Sponsors
Peking Union Medical College Hospital
Eligibility
Sex/Gender
All
Age
18 Years to 55 Years
Inclusion criteria
Inclusion criteria: 1.The subject is able to voluntarily participate, sign the informed consent form, and is willing and able to adhere to the visit schedule, treatment plan, and undergo laboratory tests and other study procedures; 2.Male or female aged 18–55 years; 3.Clinically diagnosed with RLBP1 gene variant-associated inherited retinal dystrophy; 4.Genetic testing confirms the presence of homozygous or compound heterozygous RLBP1 gene mutations, with no other pathogenic or likely pathogenic variants associated with inherited eye diseases; 5.The study eye has a Best Corrected Visual Acuity (BCVA) of less than 60 letters (inclusive) as measured by the Early Treatment Diabetic Retinopathy Study (ETDRS) chart, equivalent to less than 20/63 on the Snellen chart; 6.The non-study eye has a BCVA of no less than 4 letters as measured by the ETDRS chart, equivalent to 20/800 or better on the Snellen chart; 7.At screening, a negative blood pregnancy test result is required for women of childbearing potential (e.g., women who are not surgically sterilized or have been postmenopausal for less than 1 year). Both male and female subjects of childbearing potential and their partners must agree to use effective contraception throughout the study period and for at least 12 months after administration of the investigational product;
Exclusion criteria
Exclusion criteria: 1.The study eye has significant refractive media opacity or pupil dilation failure that interferes with visual acuity testing, anterior segment or fundus assessment; 2.The study eye has diseases such as diabetic retinopathy, retinal vein occlusion, pathological myopia, retinal detachment, etc., which, as evaluated by the investigator, affect the safety of the subject or the validity of the study; 3.The study eye has active intraocular or periocular infections (such as blepharitis, conjunctivitis, keratitis, scleritis, etc.); 4.The study eye has a history of vitreous hemorrhage within 6 months before screening; 5.The study eye has undergone intraocular surgery (such as cataract surgery, vitrectomy, trabeculectomy or other filtering surgeries, etc.) within 3 months before screening; 6.Any eye has a history of glaucoma; 7.Any eye has a history of uveitis; 8.Within 3 months before screening, there is a history of disseminated intravascular coagulation and obvious bleeding tendency (such as hemoptysis, hematemesis, severe purpura, etc.); 9.Within 6 months before screening, there is a history of myocardial infarction, unstable angina, coronary revascularization, cerebrovascular accident (including TIA), other thromboembolic diseases (such as thromboangiitis obliterans, pulmonary embolism, deep vein thrombosis, portal vein thrombosis, etc.), New York Heart Association (NYHA) classification of heart failure >= grade II, or severe unstable ventricular arrhythmia; 10.Patients with systemic immune diseases (including systemic lupus erythematosus, ankylosing spondylitis, rheumatoid arthritis, etc.); 11.Diabetic patients with any of the following conditions: (1) Known to have macrovascular complications; (2) Glycated hemoglobin (HbA1c) > 7.5% at screening; (3) Receiving treatment with two or more oral hypoglycemic drugs or insulin or GLP-1 receptor agonists; 12.Patients with poorly controlled hypertension (defined as: after taking antihypertensive drugs, the subject's sitting systolic blood pressure >= 160 mmHg or diastolic blood pressure >= 100 mmHg); 13.Any uncontrolled clinical disease (such as severe mental, respiratory system diseases, and a history of malignant tumors); 14.Patients with abnormal liver or kidney function: alanine aminotransferase (ALT)/aspartate aminotransferase (AST) >= 2 times the upper limit of normal; total bilirubin = 1.5 times the upper limit of normal; creatinine, urea/urea nitrogen >= 1.5 times the upper limit of normal; 15.Patients with abnormal coagulation function: prothrombin time (PT) > 3 seconds above the upper limit of normal or activated partial thromboplastin time (APTT) > 10 seconds above the upper limit of normal; hemoglobin (Hb) 1:1000; 18. Persons who are known to be allergic to the therapeutic or diagnostic drugs used in the study protocol, including the study drugs; 19. Those who have used anticoagulant or antiplatelet drugs within 7 days before administration; 20. Drugs that may cause crystal toxicity or retinal toxicity (such as iron removal) are currently being used or may be required Sensitivity, chloroquine/hydroxychloroquine, tamoxifen, ethambutol, etc.); 21. Have a history of surgery within 1 month before screening, and/or currently have unhealed wounds (wound degree>3 stage), moderate and severe ulcers and fractures; 22. There are infectious diseases requiring
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The incidence rate of SAE;The incidence rate of AE;The incidence rate of DLT; | — |
Secondary
| Measure | Time frame |
|---|---|
| Michigan Retinal Degeneration Questionnaire;Virus shedding;Immunogenicity;Metabolite of aqueous humor;Static visual field mean sensitivity;Dark adaptation threshold curve;Best corrected visual acuity(BCVA); | — |
Countries
China
Contacts
Public ContactRuifang Sui
Peking Union Medical College Hospital
Outcome results
None listed