Actively Recruiting

Phase 1
Phase 2
Age: 12Years - 65Years
All Genders
ID06942572

A Phase 1/2 Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of Subretinal SB-007 in Subjects With Stargardt Disease Caused by ABCA4 Gene Mutations

Led by Splice Bio · Updated on 2025-04-29

57

Participants Needed

5

Research Sites

8 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

This research aims to evaluate the safety, tolerability, and preliminary effectiveness of SB-007, a gene therapy delivered by subretinal injection, in people with Stargardt Disease type 1 (STGD1). STGD1 is an inherited retinal disorder caused by mutations in the ABCA4 gene leading to vision loss, typically starting in childhood or early adulthood. The study will enroll about 57 participants and follow them for 96 weeks after treatment to determine the best dose of SB-007. Participants will receive a single subretinal injection of SB-007. The study includes several groups receiving different doses: low, medium, high, and doses based on the maximum tolerated dose (MTD) identified in earlier phases. There is also a control group that will not receive the active treatment. SB-007 uses a novel dual AAV8 gene delivery method aiming to restore the full-length ABCA4 protein in the retina to potentially slow vision loss. During the study, participants will undergo regular safety checks and eye examinations over 96 weeks. Assessments include measuring changes in lesion size, retinal sensitivity, visual acuity under normal and low light, and quality of life through questionnaires. Researchers will monitor safety and treatment effects closely to understand how SB-007 works and its impact on disease progression. The total study duration includes treatment and follow-up.

CONDITIONS

Brief Title

A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)

Who Can Participate

Age: 12Years - 65Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Provide written consent and assent if under legal age
  • Male or female adolescents and adults aged 12 to 65 years (older than 65 may be eligible with approval)
  • Able to understand and comply with study procedures
  • Diagnosis of Stargardt Disease type 1 caused by bi-allelic pathogenic or likely pathogenic variants in the ABCA4 gene confirmed by genetic testing
  • Clinical evidence consistent with Stargardt Disease type 1
  • Negative pregnancy test for women of child-bearing potential at screening and Day 0 if receiving treatment
  • Agree to use strict abstinence or acceptable contraception for 3 months from Day 0 if sexually active
  • Clear ocular media and adequate pupillary dilation in the study eye to allow good quality retinal imaging
  • Meet visual acuity criteria based on ETDRS letter chart
  • Meet baseline lesion size measurement as determined by the Reading Center
  • Evidence of disease progression as determined by the Medical Monitor with Investigator consultation
Not Eligible

You will not qualify if you...

  • Had intraocular surgery or thermal laser within 90 days before screening or planned during the study in the study eye
  • Had major surgery within 30 days before screening or planned during the study
  • Have pathogenic variants in IRD genes other than ABCA4 or dominant/X-linked IRD genes
  • History of amblyopia in the study eye
  • Unwilling to stop vitamin A or beta-carotene supplements and prescription oral retinoids during the study
  • Previous ophthalmic gene therapy, stem cell therapy, retinal chip implantation, or relevant intraocular injections
  • Received investigational therapy within 90 days or 5 half-lives before screening
  • Known serious allergies to fluorescein dye, ocular dilating drops, anesthetics, steroids, or SB-007 components
  • Significant ocular or non-ocular disease that may pose risk or affect participation or results
  • Immediate family member of the sponsor or study site personnel

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Treatment

Duration - Single administration with follow-up assessments up to 96 weeks

Participants receive a subretinal injection of SB-007 at one of several dose levels to evaluate safety and preliminary efficacy.

Multiple visits including baseline and follow-ups up to 96 weeks

Follow-up

Duration - Up to 96 weeks post-treatment

Participants are monitored for safety, vision changes, and treatment effects after receiving SB-007.

Regular follow-up visits over 96 weeks

Trial Site Locations

Total: 5 locations

1

UCHealth Sue Anschutz-Rodgers Eye Center,

Aurora, Colorado, United States, 80045

Actively Recruiting

2

Bascom Palmer Eye Institute

Miami, Florida, United States, 33136

Actively Recruiting

3

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, United States, 02114

Actively Recruiting

4

Oregon Health & Science University

Portland, Oregon, United States, 97239

Actively Recruiting

5

Retina Foundation of the Southwest

Dallas, Texas, United States, 75261

Actively Recruiting

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Research Team

S

SpliceBio

How is the study designed?

Study Type

INTERVENTIONAL

Masking

QUADRUPLE

Allocation

RANDOMIZED

Model

SEQUENTIAL

Primary Purpose

TREATMENT

Number of Arms

6

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