Developing a cure for retinitis pigmentosa due to Usher syndrome

DOI : The term retinitis pigmentosa RP indicates a heterogeneous group of genetic rare ocular diseases in which either rods or cones are prevalently damaged. RP represents the most common hereditary cause of blindness in people from 20 to 60 years old. In general, the different RP forms consist of progressive photo-receptorial neuro-degenerations, which are characterized by variable visual disabilities and considerable socio-sanitary burden. Other individuals with RP become completely blind very early or in middle childhood. Although there is no treatment that can effectively cure RP, in some case-series the disease’s progression seems to be reducible by specific preventive approaches. In the most part of RP patients, the quality of vision can be considerably increased by means of nanometer-controlled filters.

Retinitis pigmentosa

Significant improvement in vision was demonstrated in the dose escalation phase of the trial and AAV-RPGR was found to be generally well tolerated. The primary endpoint of the trial is safety, with secondary endpoints assessing changes in visual function at pre-specified timepoints post-treatment. Baseline values were determined in triplicate.

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Study record managers: refer to the Data Element Definitions if submitting registration or results information. Retinitis pigmentosa RP is a group of inherited retinal degenerations with a worldwide prevalence of approximately 1 in 4, Patients typically report night blindness and difficulty with midperipheral visual field in adolescence. As the condition progresses, they lose far peripheral visual field.

Most patients have reductions in central vision by age 50 to 80 years. While conducting the trial on the effects of vitamin A on RP, it became apparent that another substance in the diet could be affecting the course of the disease. This prompted the present randomized, controlled trial. This study is a randomized, controlled, double-masked trial with a planned duration of 5 years. Patients with the common forms of RP are assigned to either a test or a control group.

AGTC Announces Updated Development Plan for its X-Linked Retinitis Pigmentosa Clinical Program

Mar 28, Science Education. Because measuring changes is not always easy, people in clinical trials often undergo a number of different tests over one or several years. It can be challenging for the patient, but is necessary to determine if a treatment is working. A video from a clinical trial of robot-assisted surgery demonstrates the potential benefits of robot-assisted subretinal injections.

Retinitis Pigmentosa (RP) refers to a group of inherited retinal degenerations that Articles on Fighting Blindness websites and social media are intended for.

Arch Ophthalmol. Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa. An inescapable consequence is that the relationship between genes, mutations,and clinical findings has become very complex. Success in identifying the causes of inherited retinal diseases has many implications, including a better understanding of the biological basis of vision and insights into the processes involved in retinal pathology.

From a clinical point of view, there are two important questions arising from these developments: where do we stand today in finding disease-causing mutations in affected individuals, and what are the implications of this information for clinical practice? This perspective addresses these questions specifically for retinitis pigmentosa, but the observations apply generally to other forms of inherited eye disease.

The goal of this perspective is to summarize the current state of the molecular diagnosis of retinitis pigmentosa RP and its relevance to clinical practice.

Gene Therapy Trial for Mitochondrial Disease of Retina Found Safe, Can Continue

Thus, dual AAV vectors allow gene therapy of those inherited blinding conditions, like Usher syndrome type Ib USHIB , Stargardt disease or other forms of retinitis pigmentosa, due to mutations in large genes from which the AAV platform, the best to date for in vivo gene therapy, was so far precluded. By exploiting both the Orphan Drug Designation obtained from the European Medicina Agency and two patent applications based on data generated by the PI during its consolidator ERC grant, GeneVision will support the early phase clinical development to bring this very innovative gene therapy platform for retinitis pigmentosa up to commercialization.

If this is successful, the longer plan is to obtain two additional rounds of funding to support a pivotal trial to complete the data required to obtain market authorization and start commercialization.

Retinitis pigmentosa (RP) comprises a large group of inherited vision A group of disorders that is often confused with RP is that linked to mutations, to date, to a RP (at a single study site in the United States and at three sites in Europe).

We use cookies to give you the best experience on our website. By continuing to use our website you agree to our use of cookies on your device. Retinitis pigmentosa is the term used for a group of closely related inherited eye conditions that affect the retina, the specialised light-sensitive tissue at the back of the eye. Retinis pigmentosa is the most common inherited eye condition, affecting around one in 4, people in the UK.

Although most people with the condition will only have sight loss, less commonly it can occur as part of a broader inherited syndrome that affects other parts of the body. Please enable Javascript in your browser to use our donate form. Alternatively, please visit our Just Donate page. Fight for Sight supporter to cycle to 21 London football stadiums in one day.

How Dating Works When You’re Living with Blindness

Company reiterates that its favorable safety profile and its advanced manufacturing and analytics capabilities enable rapid clinical development. In lieu of an in-person meeting likely due to limitations imposed by COVID, the FDA provided comprehensive written feedback regarding the design and execution of a registration trial and future regulatory submissions. The Company continues to move forward as planned with manufacturing, clinical site preparation and other activities to enable initiation of the studies as quickly as possible.

Retinitis pigmentosa (RP) is an eye disease. No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your.

Thank you for visiting nature. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. A Nature Research Journal. Retinitis Pigmentosa RP is the most common form of inherited retinal dystrophy IRD characterized ultimately by photoreceptors degeneration.

Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant ad , autosomal recessive ar and X-linked xl disorder. Molecular genetic diagnostic is crucial, but also challenging, for sRP patients because any of the 81 RP genes identified to date may be causative. Herein, we report the use of a customized targeted gene panel consisting of 68 IRD genes for the molecular characterization of sRP cases.

The diagnostic rate was The high number of patients diagnosed here has allowed us to study in detail the genetic basis of the sRP. The solved sRP cohort is composed of Typical RP is characterized by early loss of rod photoreceptors, manifesting with initial night blindness and tunnel vision, followed by the secondary loss of cone photoreceptors leading to decreased visual acuity and macular affectation 2.

However, the age of onset, disease progression and severity of symptoms can vary markedly among patients, even within the same family 1.

RdCVF as a novel therapeutic for retinitis pigmentosa

Click to Access Audio Press Release. The interim data showed that low and intermediate doses of the investigational adeno-associated virus retinitis pigmentosa GTPase regulator AAV-RPGR were generally well-tolerated and indicated significant improvement in vision. In patients with XLRP, the photoreceptors in the eye that are responsible for converting light into signals that are sent to the brain function poorly, leading to degeneration of the retina and legal blindness in adulthood.

Fedorov Therapy effectively treats vision loss from RP, and prevents retinal deterioration.

The results show that patients treated centrally with its product candidate demonstrated durable improvement in visual function six months after dosing. The company also remains on track to report interim six-month data from the dose escalation cohorts of both of its ongoing trials in achromatopsia later this month. Preliminary data for additional patients enrolled at a new higher dose group are consistent with previous data. Safety data from all 25 patients dosed to date continue to demonstrate a favorable profile for the XLRP candidate, with no dose-limiting inflammatory responses observed and no secondary inflammatory responses requiring re-administration of any steroid in any patients.

The company is scheduling additional patients for enrollment during the first quarter of the These patients will enable AGTC to generate the most robust set of data possible as the company moves forward with planning for a pivotal trial and eventual BLA application. The combination of improved visual function across two endpoints in centrally treated patients and the previously reported stabilization of visual function in peripherally dosed patients, suggest that this gene-based therapy has the potential to be an important new approach to treating XLRP.

To access the call, dial US or outside of the US. Please log in approximately 10 minutes prior to the scheduled start time. About AGTC AGTC is a clinical-stage biotechnology company that uses a proprietary gene therapy platform to develop transformational genetic therapies for patients suffering from rare and debilitating diseases. The optogenetics program is being developed in collaboration with Bionic Sight.

Stem Cell Clinical Trial for Retinitis Pigmentosa: Rosie’s Story


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