What is the mechanism of action of this treatment?

The most common treatments for Retinitis Pigmentosa (RP) include gene therapy, which aims to restore the function of defective genes such as RPGR. Gene therapy involves delivering a correct copy of the gene to retinal cells using viral vectors, thereby enabling the production of functional proteins necessary for photoreceptor survival and function. This approach is crucial for RP patients as it targets the underlying genetic cause of the disease, potentially halting or even reversing the progression of vision loss. By addressing the root cause, gene therapy offers a promising avenue for preserving and improving vision in individuals affected by RP.

What side effects are associated with this type of intervention?

Gene therapy for Retinitis Pigmentosa, particularly those targeting RPGR function, has shown promise in improving vision but may have side effects primarily related to the surgical delivery method, such as inflammation or infection at the injection site. Valproic acid, another treatment studied for RP, has been associated with mild adverse events, though serious adverse events unrelated to the drug have been reported. Long-term vitamin A supplementation, while generally safe, requires monitoring for potential toxicity, including liver damage and hypervitaminosis A.

What prior FDA approvals exist?

The provided context does not mention specific FDA approvals for the treatment of Retinitis Pigmentosa (RP). However, it does reference gene therapy approaches, such as the use of voretigene neparvovec for RPE65-associated Leber congenital amaurosis, which is a similar retinal degenerative condition. This gene therapy involves subretinal injection to restore visual function. The trial mentioned in the context is studying a similar gene therapy approach aimed at restoring RPGR function in patients with X-linked Retinitis Pigmentosa (XLRP).

What other types of research exist?

Promising novel alternatives to gene therapy for Retinitis Pigmentosa patients include: 1) Pharmacological treatments such as neuroprotective agents and anti-inflammatory drugs that aim to slow disease progression. 2) Stem cell therapies, which involve transplanting retinal cells derived from stem cells to replace damaged photoreceptors. 3) Retinal implants or prosthetics that can restore some degree of vision by electrically stimulating the retina. 4) RNA-based therapies, including antisense oligonucleotides and RNA interference, which target and modify the expression of specific genes involved in RP. These alternatives are in various stages of research and clinical trials and may offer new hope for patients in 2024.

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4D-125 for Retinitis Pigmentosa

Phase 1 & 2

Waitlist Available

Research Sponsored by 4D Molecular Therapeutics

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Phase 1 Dose Exploration: At least one eye amenable to IVT injection and BCVA ≤ 78 ETDRS letters (~20/32) and ≥ 34 ETDRS letters (~20/200)

Male, ≥ 6 years of age at the time of informed consent

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 24 months to 60 months

Awards & highlights

Summary

This trial is studying a treatment for non-syndromic X-linked retinitis pigmentosa, a disease that causes blindness.

Who is the study for?

This trial is for males aged 12 and older with X-linked retinitis pigmentosa (XLRP) due to RPGR gene mutations. Participants must have at least one eye suitable for injection and a certain level of vision measured by ETDRS letters. Those under phase 1 need vision between ~20/32 and ~20/200, while phase 2 requires both eyes to see at least ~20/200.Check my eligibility

What is being tested?

The study is testing the safety and effects of a new treatment called '4D-125 IVT Injection' in two parts: observing the natural progression of XLRP in some participants, while others receive the experimental injection directly into their eyes to assess its impact on their condition.See study design

What are the potential side effects?

As this is an early-phase trial for an investigational drug, specific side effects are not listed but may include typical risks associated with intravitreal injections such as eye inflammation, infection risk increase, possible visual disturbances or discomfort.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have at least one eye that can be treated with an injection and my vision is between 20/32 and 20/200.

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I am a male and at least 6 years old.

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My genetic test confirmed I have an RPGR mutation.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 24 months to 60 months

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~24 months to 60 months

This trial's timeline: 3 weeks for screening, Varies for treatment, and 24 months to 60 months for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Incidence and severity of TEAEs and serious adverse events (SAEs), including clinically significant changes in safety parameters

Trial Design

3Treatment groups

Experimental Treatment

Group I: ObservationalExperimental Treatment1 Intervention

Natural History

Group II: 4D-125 Dose ExplorationExperimental Treatment1 Intervention

Dose 1 and Dose 2 4D-125 will be administered at the assigned dose level as a single dose, IVT injection on Day 1. The contralateral eye may also be dosed with 4D-125 as a single dose, IVT injection provided the subject is eligible and provides consent.

Group III: 4D-125 Dose ExpansionExperimental Treatment1 Intervention

4D-125 will be administered at the assigned dose level as a single dose, IVT injection on Day 1 in both adults and pediatric participants. For adult participants only, the contralateral eye may also be dosed with 4D-125 as a single dose, IVT injection provided the subject is eligible and provides consent.

0 / 3Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

The most common treatments for Retinitis Pigmentosa (RP) include gene therapy, which aims to restore the function of defective genes such as RPGR. Gene therapy involves delivering a correct copy of the gene to retinal cells using viral vectors, thereby enabling the production of functional proteins necessary for photoreceptor survival and function. This approach is crucial for RP patients as it targets the underlying genetic cause of the disease, potentially halting or even reversing the progression of vision loss. By addressing the root cause, gene therapy offers a promising avenue for preserving and improving vision in individuals affected by RP.

Maintaining Cone Function in Rod-Cone Dystrophies.Gene therapy for Leber congenital amaurosis: advances and future directions.Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis.