Active not recruitingPHASE3INTERVENTIONAL

Follow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene

This research is a follow-up study investigating a gene therapy named AAV5-hRKp.RPGR for a specific eye condition called X-linked retinitis pigmentosa (XLRP). XLRP is a genetic disorder that causes progressive vision loss. The study aims to understand how safe and effective this new treatment is for people who have XLRP due to changes in their RPGR gene. Participants, aged 3 and older, will receive one of two doses of the gene therapy. This is a Phase 3 trial, meaning it's one of the final stages of testing before a treatment might be considered for wider use. The therapy is designed to deliver a working version of the RPGR gene to the cells in the eye, which researchers hope could help slow down or even stop the progression of vision loss.

At a glance

Status

Active not recruiting

Phase

PHASE3

Sponsor

Janssen Research & Development, LLC

Enrolment target

Start

04 Dec 2020

Estimated completion

07 Dec 2029

X-Linked Retinitis Pigmentosa

What is this study about?

This study is looking into a new treatment for an eye condition called X-linked retinitis pigmentosa, or XLRP. XLRP is a genetic condition that mainly affects boys and men. It causes the light-sensing cells in the back of your eye, called the retina, to slowly break down over time. This leads to a gradual loss of vision, often starting with difficulty seeing in dim light and at the edges of your vision, eventually affecting central vision too.

The treatment being tested is a gene therapy. Our bodies are made of tiny building blocks called genes, which give instructions for how our bodies work. In XLRP, there's a problem with a specific gene called RPGR. This gene therapy aims to deliver a healthy copy of the RPGR gene to the cells in the eye. The hope is that by giving these cells the correct instructions, they can start working properly again, potentially slowing down or even halting the loss of vision. The specific gene therapy being studied is called AAV5-hRKp.RPGR, and it will be tested at two different dose levels.

This is a Phase 3 study, which means it's a large and important step in testing this new treatment. Researchers have already done earlier studies to check if the treatment is safe, and now they want to find out how well it works and compare different doses. The information gathered from this trial will help doctors understand if this gene therapy could become a new way to treat XLRP in the future.

Key takeaways

This study evaluates a gene therapy for X-linked retinitis pigmentosa (XLRP).
It's for individuals aged 3 and over with an RPGR gene change.
The treatment involves delivering a healthy RPGR gene to the eye.
This is a Phase 3 trial, testing different doses of the therapy.
It aims to understand if the treatment can help slow or stop vision loss.

Who may be eligible?

To be considered for this study, you need to meet certain requirements. The most important is that you must have X-linked retinitis pigmentosa (XLRP), and this diagnosis needs to be confirmed by an eye specialist who knows about these conditions. You also need to have a specific change, or 'variant', in your RPGR gene, which is known to cause the condition. This gene change will need to have been identified by a specialist lab.

The study is open to both males and females, and you must be at least 3 years old or older. There isn't an upper age limit mentioned, so people of all adult ages could potentially be included if they meet the other criteria.

At present, there are no exclusion criteria listed, meaning there aren't any specific reasons given that would stop someone from taking part if they meet the general requirements.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do you have X-linked retinitis pigmentosa (XLRP)?
Has an eye specialist confirmed your XLRP diagnosis?
Do you have a specific change in your RPGR gene that causes XLRP?
Are you 3 years old or older?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will receive the investigational gene therapy, AAV5-hRKp.RPGR. This will be given either at an intermediate dose or a low dose. The therapy is administered directly into your eye. You will have regular visits to the clinic for check-ups and various eye tests to see how you are responding to the treatment and to monitor your vision. These assessments will help the doctors understand if the therapy is working and if there are any side effects. You'll likely need to attend several appointments over a period of time to track your progress. The total duration of your participation, including all follow-up appointments, will be clearly explained to you by the study team.

Potential risks and benefits

Participating in this trial might offer potential benefits, such as slowing down or stopping the progression of vision loss due to XLRP, or even improving your vision. However, there are also potential risks involved, which could include side effects from the gene therapy itself or from the procedure to deliver it. These will be thoroughly explained to you before you agree to take part. It's important to remember that you are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (28)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Shiley Eye Institute Jacobs Retina Center
Verified postcode
La Jolla, United States
Childrens Hospital Los Angeles
Verified postcode
Los Angeles, United States
Stanford Health Care
Verified postcode
Palo Alto, United States
VitreoRetinal Associates, PA
Verified postcode
Gainesville, United States
Emory University
Verified postcode
Atlanta, United States
Massachusetts Eye and Ear Infirmary
Verified postcode
Boston, United States
Univ of Michigan Medical Center
Verified postcode
Ann Arbor, United States
Duke Eye Center
Verified postcode
Durham, United States
University of Pittsburgh Medical Center (UPMC)
Verified postcode
Pittsburgh, United States
Retina Consultants of Houston
Verified postcode
Bellaire, United States
Ghent University Hospital
Verified postcode
Ghent, Belgium
Hospital For Sick Children
Verified postcode
Toronto, Canada

Common questions

What is X-linked retinitis pigmentosa (XLRP)?

XLRP is a genetic eye condition that causes cells in the back of your eye (retina) to break down, leading to gradual vision loss, often affecting men more severely.

What is gene therapy?

Gene therapy is a new type of treatment that aims to correct faulty genes, in this case, by delivering a healthy copy of the RPGR gene to the eye.

Will I definitely get the treatment if I join?

Yes, if you're accepted into this study, you will receive one of the two doses of the gene therapy being tested.

Is this a new treatment?

Yes, AAV5-hRKp.RPGR is an experimental treatment still being studied. This is a Phase 3 trial, meaning it's in the later stages of research.

How long will the study last?

The exact duration for each participant, including follow-up, will be discussed with you by the study team if you are eligible.