Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)

Обзор

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.

Вмешательства

• Генная терапия JWK010 gene therapy
  JWK010: AAV vector containing a coding sequence for tyrosinase.

Первичные конечные точки

• Safety(Participants With Ocular and Non-ocular AEs (Adverse Events) and SAEs (Serious Adverse Events) [Срок оценки: Baseline to day 7, day 14, month 1, 3, 6, 12]

Вторичные конечные точки (5)

• Best Corrected Visual Acuity (BCVA) [Срок оценки: Baseline to day 7, day 14, month 1, 2, 3, 6, 12]
• Pigmentation of the Fundus [Срок оценки: Baseline to day 7, day 14, month 1, 2, 3, 6, 12]
• Eye Movement [Срок оценки: Baseline to month 1, 3, 6, 12]
• Macular Structure as Assessed by Swept Source Optical Coherence Tomography [Срок оценки: Baseline to day 7, day 14, month 1, 2, 3, 6, 12]
• Electroretinogram [Срок оценки: Baseline to month 1, 3, 6, 12]

Критерии участия

Критерии включения

• Fully understand the purpose and requirements of this trial, voluntarily participate in the clinical study and sign the informed consent form (for minor subjects, the informed consent form shall be signed by their guardians), and be able to cooperate with all required tests according to the study protocol.
• Aged ≥5 years and ≤12years (inclusive of the threshold values, based on the date of signing the informed consent form), regardless of gender.
• Clinically diagnosed with OCA1A type, with ocular and cutaneous manifestations consistent with the clinical presentation of OCA1A.
• Confirmed by genetic testing to carry pathogenic mutations in both TYR alleles, without carrying pathogenic mutations associated with other ophthalmic genetic diseases.
• The visual acuity of the fellow eye is better than that of the study eye, and the visual acuity of the fellow eye is no less than 20/400

Критерии исключения

• Presence of any other condition in the study eye that may cause vision loss (e.g., optic atrophy, advanced glaucoma, uveitis).
• The presence of lens, cornea or other refractive stromal opacity in the study eye affects retinal observation and examination.
• Presence of ocular conditions that may affect suprachoroidal injection or the assessment of study endpoints.
• Have undergone intraocular surgery in the study eye within 6 months.
• Have received any gene therapy or cell therapy in the past.
• Subjects with childbearing potential are unwilling to use contraceptive measures.
• Presence of any of the following: active infection requiring systemic treatment which, in the opinion of the investigator, may affect the patient's participation or study results; positive hepatitis B surface antigen (HBsAg) with HBV DNA copy number > ULN; positive hepatitis C virus (HCV) antibody with HCV-RNA copy number > ULN; positive Treponema pallidum antibody; positive human immunodeficiency virus (HIV) antibody.
• Diagnosis of malignancy within 5 years prior to screening (except for adequately treated carcinoma in situ of the cervix, basal cell or squamous cell skin cancer, or ductal carcinoma in situ of the breast after radical resection).
• Suffering or having suffered from systemic immune system diseases.
• Abnormal laboratory values considered clinically significant: alanine aminotransferase and/or aspartate aminotransferase >2.5×ULN, total bilirubin >1.5×ULN, serum creatinine >1.5×ULN, prothrombin time ≥1.5× ULN, activated partial thromboplastin time ≥1.5×ULN.
• There is severe allergy or known allergy to the drugs used for treatment or examination in the research protocol, including allergy to study drugs.
• Pregnant or lactating women; subjects of childbearing potential who are unable to use effective contraception from 2 weeks prior to screening until 6 months after administration.
• Other circumstances that the researcher believes are not suitable for participating in this study

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Нерандомизированное

Модель

Последовательный дизайн

Маскирование

Простое слепое

Основная цель

Лечение

Центры проведения

Китай · 1 центр

• West China Hospital, Sichuan University — Чэнду

Идентификаторы

NCT: NCT07313618 · 2025-1619

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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