Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)

An Investigator-Initiated Open-Label, Multiple-Dose Clinical Study to Evaluate the Safety,Tolerability, and Efficacy of Gene Therapy for 2Leber's Congenital Amaurosis With RPE65 Mutation (LCA2)

The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutationsin RPE65 gene.

Study Overview

• Status: Recruiting
• Conditions: Leber Congenital Amaurosis
• Intervention / Treatment: Genetic: HG004

• Study Type: Interventional
• Enrollment (Estimated): 9
• Phase: Early Phase 1

Contacts and Locations

• Study Contact: Name: Director Study; Phone Number: +862125076143; Email: HG00401@huidagene.com

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China
      • Recruiting
      • Xinhua Hospital affiliated with Shanghai Jiao Tong UniversitySchool of Medicine
      • Contact: Peiquan Zhao; Phone Number: +86 13311620396

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

Male or females between 8 and 50 years of age at the time of signing theinformed consent form.

Willing to adhere to protocol as evidenced by written informed consent orparental permission and subject assent.

Clinical confirmed diagnosis of Leber congenital amaurosis (LCA) andmolecular diagnosis of LCA due to RPE65 mutations.

Ability to perform tests of visual and retinal function. Visual acuity of ≤ 20/160 or visual field less than 20 degrees in the eye to beinjected.

Acceptable hematology, clinical chemistry, and urine laboratory parameters.

Exclusion Criteria:

OCT examination determined that the outer nuclear layer was not visible inthe planned injection area (Bleb) in the study eye.

Presence of epiretinal membrane by OCT. Complicating systemic diseases or clinically significant abnormal baselinelaboratory values.

Complicating systemic diseases would include those in which the diseaseitself, or the treatment for the disease, can alter ocular function.

Prior ocular surgery within six months. Prior gene therapy or oligonucleotide therapy treatments. Any other condition that would not allow the potential subject to completefollow-up examinations during the study and would, in the opinion of theinvestigator, make the potential subject unsuitable for the study.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: HG004	Genetic: HG004; Method of Administration: Once unilateralsubretinal injection; The duration of the study isabout 60 weeks for each subject including a 8-weekscreening period, enrollment/baseline visit,treatment visit, and 52 weeks follow-up period.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence and severity of ocular and systemic adverse events	Number of adverse events (AEs), serious adverse events (SAEs), and dose-limiting toxicities (DLTs)	26 weeks

Collaborators and Investigators

• Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
• Collaborators: HuidaGene Therapeutics Co., Ltd.
• Investigators: Principal Investigator: Peiquan Zhao, Xinhua Hospital affiliated with Shanghai Jiao Tong UniversitySchool of Medicine

Study record dates

Study Major Dates

• Study Start (Actual): January 10, 2023
• Primary Completion (Estimated): January 30, 2024
• Study Completion (Estimated): December 30, 2024

Study Registration Dates

• First Submitted: October 12, 2023
• First Submitted That Met QC Criteria: October 12, 2023
• First Posted (Actual): October 18, 2023

Study Record Updates

• Last Update Posted (Actual): October 18, 2023
• Last Update Submitted That Met QC Criteria: October 12, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Eye Diseases; Neurologic Manifestations; Retinal Diseases; Eye Diseases, Hereditary; Sensation Disorders; Vision Disorders; Blindness; Leber Congenital Amaurosis
• Other Study ID Numbers: HG00401

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No