Oculocutaneous Albinism (OCA)Early Phase 1NCT07313618
Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
A Early Phase 1 study testing JWK010 gene therapy in people with Oculocutaneous Albinism (OCA), run by West China Hospital at 1 site in China.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 5 to 12 years
- Conditions the study is for
- Oculocutaneous Albinism (OCA)
- What is being tested?
- JWK010 gene therapy
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 18 participants
- Where
- 1 siteChina
- Study dates
- 22 Dec 2025to 31 Dec 2030
- Phase
- Early Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 12 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Who cannot join
- 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.
Show all 13Show fewer
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
West China Hospital, Sichuan University
Chengdu, Sichuan, 610041
Yiliu Yang, +86-18200452924, y1161606786@163.com
About this study
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.
- Conditions
- Oculocutaneous Albinism (OCA)
- Being tested
- JWK010 gene therapy
- Keywords
- TYR gene, OCA1
- Medical subject headings
- Albinism, Oculocutaneous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
JWK010 gene therapyGenetic
JWK010: AAV vector containing a coding sequence for tyrosinase.
| Study group | Role | What they receive |
|---|---|---|
| JWK010 at Dose 1 | Experimental | Suprachoroidal injection dose 1 of JWK010 in one eye Receives: Genetic: JWK010 gene therapy |
| JWK010 at Dose 2 | Experimental | Suprachoroidal injection dose 2 of JWK010 in one eye Receives: Genetic: JWK010 gene therapy |
| JWK010 at Dose 3 | Experimental | Suprachoroidal injection dose 3 of JWK010 in one eye Receives: Genetic: JWK010 gene therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety(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).
Measured: Baseline to day 7, day 14, month 1, 3, 6, 12
Secondary outcomes (5)
Best Corrected Visual Acuity (BCVA)
Visual acuity of the study eye was assessed using the Early Treatment Diabetic Retinopathy Study (ETDRS)
Measured: 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
Measured: Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Eye Movement
The function of gaze, scanning, tracking and other movement
Measured: 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)
Measured: 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)
Measured: Baseline to month 1, 3, 6, 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jan 2026
- Study start22 Dec 2025 (estimated)
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Oculocutaneous Albinism (OCA)Studies of the same condition, open and under way.
- More trials run by West China HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Model description
- This study employs a traditional '3+3' dose escalation design. It is planned to enroll up to 3 dose cohorts. Each cohort will initially enroll 3 participants. Based on the observed dose-limiting toxicities, a cohort may be expanded to include 6 participants. Therefore, the anticipated total sample size for this study ranges from 9 to 18 participants. The enrollment number provided in this registration (18) represents the maximum possible number of participants to be enrolled.
- Masking
- Single blind
- Who is masked
- Participant
- Enrolment
- 18 participants (estimated)
Sponsor and investigators
- Lead sponsor
- West China Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Fang Lu, West China Hospital
- Investigators
- Fang Lu, Principal investigator, Department of Ophthalmology, West China Hospital, Sichuan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07313618
- Sponsor's protocol ID
- 2025-1619
- Status last verified
- Jan 2026
- First submitted
- 17 Dec 2025
- Last updated
- 12 Jan 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
- ClinicalTrials.gov ID
- NCT07313618
- Acronym / sponsor ID
- 2025-1619
- Conditions
- Oculocutaneous Albinism (OCA)
- Keywords
- TYR gene, OCA1
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 18 participants (estimated)
- Lead sponsor
- West China HospitalUniversity, hospital or other
- Study start
- 22 Dec 2025 (estimated)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 2 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- Single blind (participant)
- Number of arms
- 3
- Model description
- This study employs a traditional '3+3' dose escalation design. It is planned to enroll up to 3 dose cohorts. Each cohort will initially enroll 3 participants. Based on the observed dose-limiting toxicities, a cohort may be expanded to include 6 participants. Therefore, the anticipated total sample size for this study ranges from 9 to 18 participants. The enrollment number provided in this registration (18) represents the maximum possible number of participants to be enrolled.
| Arm | Type | Receives |
|---|---|---|
| JWK010 at Dose 1 | Experimental | Genetic: JWK010 gene therapySuprachoroidal injection dose 1 of JWK010 in one eye |
| JWK010 at Dose 2 | Experimental | Genetic: JWK010 gene therapySuprachoroidal injection dose 2 of JWK010 in one eye |
| JWK010 at Dose 3 | Experimental | Genetic: JWK010 gene therapySuprachoroidal injection dose 3 of JWK010 in one eye |
Who may qualify
- Ages
- 5 to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (13 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| JWK010 gene therapyJWK010: AAV vector containing a coding sequence for tyrosinase. | Genetic | JWK010 at Dose 1, JWK010 at Dose 2, JWK010 at Dose 3 |
Primary outcome
Safety(Participants With Ocular and Non-ocular AEs (Adverse Events) and SAEs (Serious Adverse Events)
Time frame: Baseline to day 7, day 14, month 1, 3, 6, 12
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).
5 secondary outcomes
Best Corrected Visual Acuity (BCVA)
Time frame: Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Pigmentation of the Fundus
Time frame: Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Eye Movement
Time frame: Baseline to month 1, 3, 6, 12
Macular Structure as Assessed by Swept Source Optical Coherence Tomography
Time frame: Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Electroretinogram
Time frame: Baseline to month 1, 3, 6, 12
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jan 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Fang Lu principal investigator
Department of Ophthalmology, West China Hospital, Sichuan University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing JWK010 gene therapy in people with Oculocutaneous Albinism (OCA), run by West China Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yiliu Yang (+86-18200452924, y1161606786@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety(Participants With Ocular and Non-ocular AEs (Adverse Events) and SAEs (Serious Adverse Events) (time frame: Baseline to day 7, day 14, month 1, 3, 6, 12). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jan 2026.