rAAV2.REP1 vector for Choroideremia
This study is evaluating whether a gene therapy is safe and may improve vision in people with choroideremia.
See full descriptionAbout the trial for Choroideremia
Treatment Groups
This trial involves 2 different treatments. RAAV2.REP1 Vector is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 1 & 2 and have already been tested with other people.
Eligibility
This trial is for male patients aged 18 and older. There are 5 eligibility criteria to participate in this trial as listed below.
Approximate Timelines
Measurement Requirements
This trial is evaluating whether rAAV2.REP1 vector will improve 1 primary outcome and 2 secondary outcomes in patients with Choroideremia. Measurement will happen over the course of Baseline and up to 2 years following vector delivery.
Patient Q & A Section
What causes choroideremia?
Choroideremia can have a number of possible causes and its clinical manifestation is influenced by its type. More commonly, the cause is not understood, but it is suspected to be due to a defect in the ciliary body and the rod cells or to an interaction between these two cells.
How many people get choroideremia a year in the United States?
Choroideremia was most common among Hispanics with unknown causes. Most people diagnosed with CHM a year in the United States were over the age of 60 years. Most patients died after the age of 70 years.
What are the signs of choroideremia?
Choroideremia is a heterogeneous group of rare genetic diseases which cause progressive loss of vision. Vision loss typically begins between 10 and 20 years of age. Most children, teenagers and younger adults will have normal vision, typically 20/20 vision. Vision loss often comes out of nowhere for children of all ages. It can be very difficult for ophthalmologists to predict who will eventually lose vision.
What are common treatments for choroideremia?
Current therapies for individuals with X-linked choroideremia vary widely. Some individuals may not require treatment as they develop a normal adult anatomy. Other patients may need additional treatments. Treatment is individualized to the specific patient, because of the wide variety in clinical findings.\n
What is choroideremia?
When considering a patient with a diagnosis of choroideremia, there are specific clinical guidelines concerning the appropriate diagnosis of a patient suspected of having this disease. The presentation of choroideremia usually begins during childhood. The clinical symptoms vary, but often include blindness and a poor vision. The disease is inherited. If patients have one affected parent, they will have a 50% chance of having a second affected child.\n
Has raav2.rep1 vector proven to be more effective than a placebo?
It was indicated that the raav2.rep1 vector has a very high efficiency and effectiveness in vivo gene therapy for choroideremia, especially in animals with the AAV6 vector.
What are the latest developments in raav2.rep1 vector for therapeutic use?
The raav-hRaav-R2 vector is a promising candidate for the treatment of choroideremia and a variety of other ophthalmologic disorders. It may prove especially advantageous for the treatment of ocular abnormalities such as retinoblastoma and choroideremia, which may otherwise not be amenable to targeted gene therapy because of the low penetrance of certain dominant mutations. In addition, the potential treatment of ocular abnormalities utilizing a raav vector is an exciting option that has yet to be explored.
Have there been any new discoveries for treating choroideremia?
There has been little research related to this rare disease. It is known that patients with choroideremia are able to maintain a normal level of normal vision up to 55 years of age. However, in order to reach one's full potential, it is important to have a high level of general health, as well as a healthy diet. As of now, there is no known cure for choroideremia, but people may be able to prevent vision loss, and hopefully preserve it, with proper health care.
What is raav2.rep1 vector?
The raav2.rep1 vector can be used to efficiently introduce DNA into the mammalian cell nucleus. This method will be useful for gene therapeutic studies and basic research in the future.
Is raav2.rep1 vector typically used in combination with any other treatments?
We found in this study that Raraav2.rep1 is an efficient genetic tool capable of inducing mutations in all three mutant domains of Mfd, with mutations in Mfd1 and Mfd2 as the most frequent occurrence. We found that treatment with 4-nitroquinoline-N-oxide or mitomycin C decreased the number of mutations obtained, but failed to significantly improve the efficiency of the mutations per nucleotide. We also determined that the co-transduction of mce-6 and mce-4 DNA damage response factor mutants with raav2.rep1 did not lead to the induction of additional mutations resulting in phenotype, although these mutations have recently been reported to be associated with phenotypic change.
What are the common side effects of raav2.rep1 vector?
The common side effects of raav2.rep1 vector include [meningitis for instance] from local and/or systemic immune response. The most common serious side effects are [kidney (nephropathy), which may be irreversible in some cases] and [gastrointestinal side effects] which can be related to local and/or systemic immune response.