Tip 1 Okülokutanöz Albinizmi (OCA1) Olan Kişilerde Tek Doz Suprakoroidal JWK010 Gen Tedavisi Enjeksiyonunun Güvenliği ve Etkinliği

Sade dilde özet

Okülokutanöz albinizm (oculocutaneous albinism, OCA), gözlerde, deride ve saçta pigment (melanin) az olması ya da hiç olmaması ile seyreden ve ışığa duyarlılık, şaşılık, görme azlığı ve istemsiz göz hareketleri gibi belirtilere yol açabilen bir durumdur; Tip 1 OCA, melanin üretimi için gerekli olan tirozinaz enzimini kodlayan gendeki değişikliklerden kaynaklanır. Bu Erken Faz 1 (Early Phase 1) çalışma, OCA1 hastaları için geliştirilen ve hücrelerin işlevsel tirozinaz proteini üretmesini sağlamayı hedefleyen JWK010 gen tedavisinin tek doz suprakoroidal enjeksiyon şeklinde uygulanmasının güvenliğini ve etkinliğini inceliyor. Katılımcıların çalışmanın amacını ve gerekliliklerini anlaması, gönüllü olarak katılması ve onam formunu imzalaması (reşit olmayanlarda veli onayı) gerekmektedir.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

Erken Faz 1 (Early Phase 1)

Durum

Katılımcı alıyor

Sponsor

West China Hospital

Müdahale

JWK010 gene therapy

Başlangıç

22.12.2025

Tahmini bitiş

31.12.2030

Ülkeler

China

Merkezler

• Chengdu, China

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

1. 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.
2. Aged ≥5 years and ≤12years (inclusive of the threshold values, based on the date of signing the informed consent form), regardless of gender.
3. Clinically diagnosed with OCA1A type, with ocular and cutaneous manifestations consistent with the clinical presentation of OCA1A.
4. Confirmed by genetic testing to carry pathogenic mutations in both TYR alleles, without carrying pathogenic mutations associated with other ophthalmic genetic diseases.
5. 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

Exclusion Criteria:

1. Presence of any other condition in the study eye that may cause vision loss (e.g., optic atrophy, advanced glaucoma, uveitis).
2. The presence of lens, cornea or other refractive stromal opacity in the study eye affects retinal observation and examination.
3. Presence of ocular conditions that may affect suprachoroidal injection or the assessment of study endpoints.
4. Have undergone intraocular surgery in the study eye within 6 months.
5. Have received any gene therapy or cell therapy in the past.
6. Subjects with childbearing potential are unwilling to use contraceptive measures.
7. 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.
8. 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).
9. Suffering or having suffered from systemic immune system diseases.
10. 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.
11. There is severe allergy or known allergy to the drugs used for treatment or examination in the research protocol, including allergy to study drugs.
12. 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.
13. Other circumstances that the researcher believes are not suitable for participating in this study