OPGx-BEST1 for Best Disease

(BIRD-1 Trial)

Overseen By Mark Pennesi, M.D., Ph.D

Age: 18+

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: Opus Genetics, Inc

Must not be taking: Anticoagulants, Immunosuppressants, others

Disqualifiers: Pregnancy, Immunocompromised, Gene therapy, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 17

Duration: 1 day

10 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores a new treatment called OPGx-BEST1 to determine its effectiveness for Best Disease, including BVMD and ARB Bestrophinopathy, which are eye conditions that can cause vision loss. The study will assess the treatment's safety and efficacy when injected into one eye, while also determining the appropriate dosage. Suitable candidates for this trial include individuals with a genetic confirmation of BVMD or ARB, experiencing vision issues related to these conditions. As a Phase 1 trial, this research aims to understand how the treatment works in people, offering participants the opportunity to be among the first to receive it.

Do I need to stop my current medications to join the trial?

The trial protocol does not specify if you need to stop taking your current medications. However, if you are on continuous systemic immunosuppressive treatment or anticoagulant therapy, you may not be eligible to participate.

Is there any evidence suggesting that drug OPGx-BEST1 is likely to be safe for humans?

Earlier research has shown that OPGx-BEST1 is well tolerated. Studies indicate that patients did not experience significant eye or body problems with low or middle doses, suggesting the treatment is safe at these levels. This trial is in early stages (Phase 1 and Phase 2), meaning researchers are still learning about its safety in humans. However, it appears promising, with no major safety issues reported so far. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

OPGx-BEST1 is unique because it targets Best Disease with a gene therapy approach, which is a novel method compared to current treatments. Unlike other treatments that mainly focus on managing symptoms, OPGx-BEST1 could address the root cause by delivering a corrected version of the BEST1 gene directly to the retina via a subretinal injection. This direct delivery method allows for potentially long-lasting effects from a single treatment, offering hope for more effective and enduring outcomes. Researchers are excited because this approach could significantly improve vision and quality of life for patients in a way that existing treatments can't.

What evidence suggests that OPGx-BEST1 might be an effective treatment for Best Disease?

Research has shown that OPGx-BEST1 may help treat Best Disease, caused by changes in the BEST1 gene. These changes lead to macular degeneration, a condition that causes vision loss. Early lab studies demonstrated that OPGx-BEST1 can restore the BEST1 protein and improve eye function. This suggests that OPGx-BEST1 might help maintain or improve vision in patients. Although researchers are still gathering information from human studies, these early results offer encouragement for those considering this treatment. ^{1 2 3 4 6}

Are You a Good Fit for This Trial?

This trial is for patients with Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB), eye conditions that affect vision. Specific eligibility criteria are not provided, but typically include a confirmed diagnosis and meeting certain health standards.

Inclusion Criteria

Able and willing to comply with all study assessments for the duration of the study

Have ETDRS BCVA measured within specified ranges

Provide informed consent to study assessments

Exclusion Criteria

Have conditions that would hinder follow-up examinations or make participation hazardous

Have hypersensitivity to constituents or excipients in the pharmaceutical formulation of the IMP

Are an employee of the Sponsor or a relative of the Investigator or investigative site staff

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

1 visit (in-person)

Baseline

Participants undergo a two-part Baseline visit before treatment

1 week

2 visits (in-person)

Treatment

Participants receive a single subretinal injection of OPGx-BEST1

1 day

1 visit (in-person)

Initial Follow-up

Participants are monitored for safety and efficacy post-injection

6 months

7 visits (in-person)

Long-term Follow-up

Participants are monitored for safety and efficacy for 5 years post-injection

5 years

6 visits (in-person)

What Are the Treatments Tested in This Trial?

Interventions

• OPGx-BEST1

Trial Overview The study tests the safety, tolerability, and efficacy of OPGx-BEST1 when injected into one eye of participants. It aims to determine the best dose for future use and will monitor effects over a five-year period after a single injection.

How Is the Trial Designed?

Group I: OPGx-BEST1 Experimental Treatment 1 Intervention

OPGx-BEST1, 1.5E9 vg/eye injected one time subretinally

Who Is Running the Clinical Trial?

Opus Genetics, Inc

Lead Sponsor

Trials

1

Recruited

20+

Retina Foundation of the Southwest

Collaborator

Trials

15

Recruited

1,600+

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT07185256

Safety and Tolerability of Subretinally Injected OPGx- ... The goal of this clinical trial is to learn if drug OPGx-BEST1 works to treat BVMD and ARB Bestrophinopathy. It will also learn about the ...

2. ophthalmologytimes.com ophthalmologytimes.com/view/fda-clears-ind-for-opus-genetics-opgx-best1-gene-therapy-for-inherited-retinal-disease

FDA clears IND for Opus Genetics' OPGx-BEST1 gene ... Best disease results from BEST1 gene mutations, causing macular degeneration and progressive vision loss.

3. ir.opusgtx.com ir.opusgtx.com/press-releases/detail/495/opus-genetics-announces-fda-clearance-of-ind-application-for-gene-therapy-candidate-opgx-best1

Opus Genetics Announces FDA Clearance of IND ... The program builds on extensive preclinical work demonstrating restoration of BEST1 protein expression and improved retinal function in relevant ...

4. trialx.com trialx.com/clinical-trials/listings/308131/safety-and-tolerability-of-subretinally-injected-opgx-best1-in-patients-with-best-vitelliform-macular-dystrophy-bvmd-or-autosomal-recessive-bestrophinopathy-arb/?&geo_lat=32.7766642&geo_lng=-96.7969879&radius=10&place=Dallas&user_country=United%20States

Safety and Tolerability of Subretinally Injected OPGx- ... Overview. The goal of this clinical trial is to learn if drug OPGx-BEST1 works to treat BVMD and ARB Bestrophinopathy.

5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/38278445/

Best Vitelliform Macular Dystrophy Natural History Study ... To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults.

6. glance.eyesoneyecare.com glance.eyesoneyecare.com/stories/2025-08-18/fda-clears-opus-genetics-ind-for-best1-ird-gene-therapy/

FDA clears Opus Genetics' IND for BEST1 IRD gene therapy The results: OPGx-BEST1 was well tolerated and resulted in no significant ophthalmic and systemic toxicity at two of its doses (low- and mid- ...