Oculocutaneous albinism (OCA) is the most common type of albinism. People with OCA have little or no pigment (melanin) in their eyes, skin, and hair. This often leads to symptoms such as sensitivity to light, crossed or misaligned eyes, reduced vision, and involuntary eye movements. OCA type 1 is caused by changes in the tyrosinase gene, which results in a lack or reduced function of the tyrosinase enzyme. This enzyme is essential for producing melanin, so people with OCA1 cannot make enough of it. JWK010 is a gene therapy product developed specifically for patients with OCA1. It is designed to help the cells produce functional tyrosinase protein, with the goal of restoring pigment in the retina and improving retinal structure and function.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
SINGLE
Enrollment
18
JWK010: AAV vector containing a coding sequence for tyrosinase.
West China Hospital, Sichuan University
Chengdu, Sichuan, China
RECRUITINGSafety(Participants With Ocular and Non-ocular AEs (Adverse Events) and SAEs (Serious Adverse Events)
The primary outcome measures are safety, determined by the number of ocular and non-ocular Study Drug-related adverse events (SDAE), treatment-emergent adverse events (TEAEs) and serious adverse events (SAEs).
Time frame: Baseline to day 7, day 14, month 1, 3, 6, 12
Best Corrected Visual Acuity (BCVA)
Visual acuity of the study eye was assessed using the Early Treatment Diabetic Retinopathy Study (ETDRS)
Time frame: Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Pigmentation of the Fundus
Evaluate retinal pigmentation and changes from baseline through fundus examination and fundus photography
Time frame: Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Eye Movement
The function of gaze, scanning, tracking and other movement
Time frame: Baseline to month 1, 3, 6, 12
Macular Structure as Assessed by Swept Source Optical Coherence Tomography
Change in swept source optical coherence tomography(SS-OCT)
Time frame: Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Electroretinogram
The ERG measurement will be performed based on the standards of international society for clinical electrophysiology of vision (ISCEV)
Time frame: Baseline to month 1, 3, 6, 12
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