CLINICAL TRIAL

Genetic: AAV5-RPGR 4e11 for Retinitis Pigmentosa

Recruiting · Any Age · All Sexes · Boston, MA

This study is evaluating whether a gene therapy approach can be used to treat patients with X-linked retinitis pigmentosa (XLRP).

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About the trial for Retinitis Pigmentosa

Eligible Conditions
Retinitis Pigmentosa · X-Linked Retinitis Pigmentosa · Retinitis

Treatment Groups

This trial involves 3 different treatments. Genetic: AAV5-RPGR 4e11 is the primary treatment being studied. Participants will be divided into 2 treatment groups. There is no placebo group. The treatments being tested are in Phase 3 and have had some early promising results.

Experimental Group 1
Genetic: AAV5-RPGR 4e11
BIOLOGICAL
Experimental Group 2
Genetic: AAV5-RPGR 2e11
BIOLOGICAL
Control Group 3
Genetic: AAV5-RPGR 2e11
BIOLOGICAL
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Genetic: AAV5-RPGR 4e11
BIOLOGICAL

Eligibility

This trial is for patients born any sex of any age. There is one eligibility criterion to participate in this trial as listed below.

Inclusion & Exclusion Checklist
Mark “yes” if the following statements are true for you:
Male or female, 3 years of age or older, has XLRP confirmed by a retinal specialist and has a predicted disease-causing sequence variant in RPGR confirmed by an accredited laboratory.
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Odds of Eligibility
Unknown<50%
Be sure to apply to 2-3 other trials, as you have a low likelihood of qualifying for this one.Apply To This Trial
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Approximate Timelines

Please note that timelines for treatment and screening will vary by patient
Screening: ~3 weeks
Treatment: varies
Reporting: Month 60
Screening: ~3 weeks
Treatment: Varies
Reporting: Month 60
This trial has approximate timelines as follows: 3 weeks for initial screening, variable treatment timelines, and reporting: Month 60.
View detailed reporting requirements
Trial Expert
Connect with the researchersHop on a 15 minute call & ask questions about:
- What options you have available- The pros & cons of this trial
- Whether you're likely to qualify- What the enrollment process looks like

Measurement Requirements

This trial is evaluating whether Genetic: AAV5-RPGR 4e11 will improve 1 primary outcome and 7 secondary outcomes in patients with Retinitis Pigmentosa. Measurement will happen over the course of Day 0 - Month 60.

To assess changes in functional vision Change from baseline in functional vision as measured by visual mobility assessment
DAY 0 - MONTH 60
To assess changes in functional vision Change from baseline in functional vision as measured by visual mobility assessment
DAY 0 - MONTH 60
Safety and tolerability of bilateral treatment with AAV5-RPGR as measured by: Number of participants with abnormalities in Hematologic and Clinical Chemistry parameters
DAY 0 - MONTH 60
Number of participants with abnormalities in Hematologic and Clinical Chemistry parameters
DAY 0 - MONTH 60
To assess changes from baseline in patient-reported functional vision as assessed by the patient-reported outcome questionnaire, Impact of Vision Impairment (IVI) - 'Reading and Accessing Information' domain
DAY 0 - MONTH 60
To assess changes from baseline in patient-reported functional vision as assessed by the patient-reported outcome questionnaire, Impact of Vision Impairment (IVI) - 'Reading and Accessing Information' domain
DAY 0 - MONTH 60
Safety and tolerability of bilateral treatment with AAV5-RPGR as measured by: Number of participants with ocular and non-ocular adverse events
DAY 0 - MONTH 60
Number of participants with ocular and non-ocular adverse events
DAY 0 - MONTH 60
Change from baseline in visual function as measured by contrast sensitivity
DAY 0 - MONTH 60
Change from baseline in visual function as measured by contrast sensitivity
DAY 0 - MONTH 60
Change from baseline in visual function as measured by Early Treatment of Diabetic Retinopathy Study (ETDRS)
DAY 0 - MONTH 60
Change from baseline in visual function as measured by Early Treatment of Diabetic Retinopathy Study (ETDRS)
DAY 0 - MONTH 60
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Patient Q & A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Who should consider clinical trials for retinitis pigmentosa?

Physicians need patients with clinically classic RP to consider clinical trials for gene therapy or gene therapy combined with other ophthalmic treatments. Patients with mild and asymptomatic RP, whose vision has not dropped or is improving, can often be assured of avoiding unnecessary research and treatment. Physicians should also consider clinical trials for patients who have some form of RP-associated dysmorphism.

Anonymous Patient Answer

What is retinitis pigmentosa?

Retinitis pigmentosa is a group of rare genetic diseases caused by mutations in genes that either lead to or cause the deterioration of the retina. \n

Anonymous Patient Answer

What are the signs of retinitis pigmentosa?

People with RP may have vision changes that can be  described at 1 metre and 6 metres. There can be visual symptoms such as  night blindness, loss of central acuity and tunnel vision. Symptoms are progressive and  occasional in nature. There can be more subtle aspects to  retinitis pigmentosa that manifest as difficulty with reading, driving,  concentrating, and night sight problems.

Anonymous Patient Answer

What causes retinitis pigmentosa?

RP is caused by mutations in more than 200 different genes. The genetic causes have many distinct types but are not well understood. Many genes are needed, both to specify the different kinds of RP and to explain the range of types and severity of the disease. Although a small number of patients can be traced back to a single person, most RP families are not related. This suggests genetic heterogeneity. There is also evidence that RP has a substantial environmental component, although the genetic and environmental causes are not fully understood. Even though the causes of RP are not well understood, it is possible to improve the lives of patients and protect their family members. This article focuses on the most common RP.

Anonymous Patient Answer

Can retinitis pigmentosa be cured?

This novel gene therapy successfully rescued retinal degeneration caused by a well-defined mutation of rhodopsin gene and could reduce the development of retinal degeneration in a mouse model by 90%. The successful results of our therapy indicate the possible clinical usefulness of this treatment strategy for treating patients with ARMDs.

Anonymous Patient Answer

How many people get retinitis pigmentosa a year in the United States?

One study found at least 1.78 million individuals living with RP in the United States. The prevalence of RP is roughly 1 in 5000 in New England and about 1 in 50,000 in North America, while, in the rest of the country, it is about 1 in 125,000.

Anonymous Patient Answer

What are common treatments for retinitis pigmentosa?

In a survey of adult and pediatric ophthalmologists, vitamin A-containing supplements are the most frequently used treatment. Immunoglobulin therapy is another frequent use. The use of laser treatment was very common.

Anonymous Patient Answer

Is genetic: aav5-rpgr 4e11 typically used in combination with any other treatments?

Genetic:Aav5-rpgr 4e11 is typically used in combination with any other treatment. Gene correction using Lentiviral vectors seems to be of value in patients even when aav5 is not corrected. Retinal stem cells have been successfully used in patients with RP. The most success seems to have been observed in patients having a mutation in rhodopsin (typically rhodopsin p158h). Stem cell therapy was observed to work by creating a more efficient method of protein synthesis in the retina. With this new method of protein synthesis, the patient is then able to produce more protein than they were previously able to. Stem cell therapy and genetic therapy are two promising methods for improving retinal regeneration.

Anonymous Patient Answer

Does retinitis pigmentosa run in families?

We have found that RP is frequently inherited as a dominant form. As with RDS, the family study is the best method for deciding the appropriate mode of inheritance.

Anonymous Patient Answer

What is the latest research for retinitis pigmentosa?

This article summarizes the new findings in the field of retinitis pigmentosa and reviews the research in the area of ocular therapeutics. At this early stage of research, there is no treatment yet that totally prevents the development of RP. Researchers are working to find ways to help the patient’s retina, which would help preserve vision even at the initial stage, and is making huge progress. As the research progresses, we will be able to treat more and more patients. New types of therapies can be developed to treat retinitis pigmentosa. It is really nice to hope for the future and the future vision in patients with retinitis pigmentosa.

Anonymous Patient Answer

Have there been any new discoveries for treating retinitis pigmentosa?

New drugs and therapies are constantly being researched. It is reported that some are already being tested on humans. Gene therapy is also in early tests. There is also a treatment that uses stem cells. These treatments are being used on patients to restore some sight. However, it can be difficult for patients to take the pills sometimes, and other patients may have difficulty taking pills forever to stay alive. There is a new treatment for patients with retinal degenerations because more and more patients with retinal dystrophies are diagnosed and it is difficult to heal them, because they have to have a long way to come back from blindness. This is because the eyeball may need to be replaced by surgery, eye implants, gene therapy, or laser.

Anonymous Patient Answer

How does genetic: aav5-rpgr 4e11 work?

Here we describe a novel, homologous AAV5 based gene therapy platform that allows gene transfer across a wide range of human cell types in vitro and in vivo. Although the current vector is relatively simple and can be used without refinement, additional changes to improve AAV5 transduction in vivo and in particular targeting of transgene expression towards photoreceptors in diseased models would be of major clinical benefit.

Anonymous Patient Answer
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