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Adenovirus Associated Viral Vector Serotype 5 Containing The Human Pde6B Gene

This article discusses ongoing clinical trials investigating the use of a novel gene therapy called HORA-PDE6B for treating retinitis pigmentosa (RP) caused by mutations in the PDE6B gene. HORA-PDE6B is an adenovirus-associated viral vector that carries the human PDE6B gene, designed to be administered through a subretinal injection. The trials aim to assess the safety and potential efficacy of this treatment in patients with PDE6B-related retinitis pigmentosa, a rare inherited eye disorder that causes progressive vision loss.

Table of Contents

What is HORA-PDE6B?

HORA-PDE6B is an experimental gene therapy treatment being developed for patients with a specific type of retinitis pigmentosa. Its full name is “Adenovirus Associated Viral Vector Serotype 5 Containing the Human PDE6B Gene,” but it’s also known by the shorter name HORA-PDE6B[1]. This therapy is designed to treat retinitis pigmentosa caused by mutations in the PDE6B gene.

Target Condition: Retinitis Pigmentosa

Retinitis pigmentosa is a group of rare genetic disorders that involve a breakdown and loss of cells in the retina, which is the light-sensitive tissue at the back of the eye. In the case of PDE6B-related retinitis pigmentosa, the condition is specifically caused by mutations in the PDE6B gene[1]. This gene is responsible for producing an important enzyme in the visual cycle, and when it’s not working correctly, it can lead to vision loss.

How HORA-PDE6B Works

HORA-PDE6B is a type of gene therapy. It uses a modified virus (adenovirus associated viral vector serotype 5) to deliver a healthy copy of the PDE6B gene to the retina. The goal is to provide the cells in the retina with the correct instructions to produce the missing or faulty enzyme, potentially slowing or stopping the progression of vision loss[1].

Clinical Trial Details

A clinical trial is currently underway to test the safety and potential effectiveness of HORA-PDE6B. This is a Phase 1/2 trial, which means it’s an early-stage study primarily focused on safety, but also looking at potential signs of effectiveness[1]. The treatment is administered through a subretinal injection, which means it’s injected directly under the retina of one eye.

Eligibility Criteria

The trial has specific criteria for who can participate. Some key points include:

  • Patients must have retinitis pigmentosa caused by mutations in the PDE6B gene
  • Participants must be at least 13 years old (for some parts of the study, the minimum age is 18)
  • Patients must still have some remaining central retinal function
  • Certain levels of visual acuity and visual field are required, depending on which part of the study a patient might join

There are also many factors that might exclude someone from participating, such as certain other medical conditions or previous treatments[1].

Safety and Efficacy Assessment

The main goal of this trial is to assess the safety of HORA-PDE6B. Researchers will be closely monitoring participants for any side effects or complications. They’ll be looking at things like:

  • Changes in eye health through routine eye exams
  • Signs of inflammation in the eye
  • How well the retina and surrounding tissues tolerate the treatment
  • Overall health indicators like vital signs and laboratory tests

In addition to safety, the researchers will also be looking for signs that the treatment might be working. They’ll be conducting various tests to measure visual function, including:

  • Visual acuity tests (how well you can see at different distances)
  • Color vision tests
  • Visual field tests (how wide an area you can see)
  • Various types of retinal function tests (ERG, microperimetry)
  • Tests of how well participants can move around in different lighting conditions

They’ll also be using imaging techniques to look at the structure of the retina and tracking changes in quality of life for adult participants[1].

Potential Benefits and Risks

As an experimental treatment, it’s important to understand that the benefits of HORA-PDE6B are not yet proven. The hope is that it could slow or stop the progression of vision loss in people with PDE6B-related retinitis pigmentosa, but this needs to be demonstrated through careful study.

There are also potential risks to consider. Gene therapy and eye injections can have side effects, which could include inflammation, changes in eye pressure, or other complications. The full range of possible side effects may not yet be known, which is why careful monitoring during the trial is so important[1].

If you have retinitis pigmentosa related to PDE6B mutations and are interested in this trial, it’s important to discuss it thoroughly with your doctor. They can help you understand if you might be eligible and whether the potential benefits outweigh the risks in your individual case.

Aspect Details
Treatment Name HORA-PDE6B (Adenovirus Associated Viral Vector Serotype 5 Containing The Human PDE6B Gene)
Condition Treated Retinitis Pigmentosa caused by PDE6B gene mutations
Administration Method Unilateral subretinal injection
Trial Phase Phase 1/2
Primary Objective Assess safety of HORA-PDE6B administration
Secondary Objectives Evaluate immune responses, viral shedding, and treatment efficacy
Key Eligibility Criteria Confirmed PDE6B mutations, specific visual acuity and field preservation, age ≥18 (or ≥13 for one cohort)
Main Assessments Visual acuity, color vision, visual fields, ERG, OCT, quality of life

FAQ

  • What is HORA-PDE6B and how does it work? HORA-PDE6B is a gene therapy treatment that uses an adenovirus-associated viral vector to deliver a healthy copy of the PDE6B gene to the retina. It's designed to treat retinitis pigmentosa caused by mutations in the PDE6B gene by potentially restoring the function of rod photoreceptor cells in the retina.
  • Who is eligible for these clinical trials? Eligible participants include patients with retinitis pigmentosa caused by PDE6B gene mutations, aged 18 years and older for most cohorts (13 years and older for one cohort). They must have specific levels of visual acuity and central visual field preservation, confirmed genetic testing results, and meet other health-related criteria.
  • How is the treatment administered? HORA-PDE6B is administered through a subretinal injection, which means it's injected directly under the retina of one eye during a surgical procedure.
  • What are the main goals of these clinical trials? The primary goal is to assess the safety of HORA-PDE6B treatment. Secondary goals include evaluating potential immune responses, viral shedding, and the treatment's efficacy in improving various aspects of vision and retinal function.
  • What tests will be performed during the trials? Participants will undergo various tests including visual acuity measurements, color vision tests, visual field assessments, electroretinography (ERG), optical coherence tomography (OCT), and quality of life evaluations. Some participants may also undergo functional magnetic resonance imaging (fMRI).

Ongoing Clinical Trials on Adenovirus Associated Viral Vector Serotype 5 Containing The Human Pde6B Gene

  • Study of HORA-PDE6B’s Safety in Retinitis Pigmentosa Patients with PDE6B Gene Mutations

    Not recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    France

Glossary

  • Retinitis Pigmentosa (RP): A group of rare genetic disorders that involve a breakdown and loss of cells in the retina, leading to progressive vision loss.
  • PDE6B Gene: A gene that provides instructions for making an enzyme called phosphodiesterase 6B, which is important for normal vision.
  • Adenovirus Associated Viral Vector: A modified virus used to deliver genetic material into cells as part of gene therapy treatments.
  • Subretinal Administration: A method of delivering medication or gene therapy directly beneath the retina through a surgical procedure.
  • Visual Acuity: A measure of the sharpness or clarity of vision, often tested using an eye chart.
  • Electroretinography (ERG): A test that measures the electrical responses of various cell types in the retina, helping to assess retinal function.
  • Optical Coherence Tomography (OCT): An imaging technique that uses light waves to take cross-section pictures of the retina.
  • Fundus Autofluorescence: An imaging method that can show changes in the retinal pigment epithelium, often used to assess retinal health.
  • Microperimetry: A technique that measures visual sensitivity at different locations in the central visual field while simultaneously imaging the retina.
  • Dark Adaptation: The process by which the eye adjusts to see in low light conditions, often impaired in retinal diseases.

References

  1. http://clinicaltrials.eu/trial/56935/