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. Currently, there are no approved treatments for this condition. 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.

Developing a cure for retinitis pigmentosa due to Usher syndrome

DeAngelis, Thaddeus P. Retinitis pigmentosa RP and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display.

ProQR to study new drug candidate for retinitis pigmentosa and efficacy of QR-​ in up to 12 adult patients at sites in North America.

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. The comments are limited largely to nonsyndromic, nonsystemic forms of RP, using autosomal dominant RP adRP as an example. It is important to recognize, though, that what is true for simple RP is true in general for most other forms of inherited retinal degeneration.

There has been rapid progress in identifying genes and mutations causing all forms of retinal disease, including multifactorial diseases such as age-related macular degeneration. Of course,the specific genes are different and the clinical findings are distinct, but the implications for clinical practice are similar. For example, what is true for RP alone is also true for Usher syndrome, Bardet-Biedl syndrome, and familial macular degeneration.

That is, many genes and mutations are also known for these diseases and have relevance to clinical practice. Retinitis pigmentosa encompasses many different diseases with many distinct causes and diverse biological pathways but with overlapping symptoms and similar consequences.

Clinical and Rehabilitative Management of Retinitis Pigmentosa:Up-to-Date

Gene Therapy – Tools and Potential Applications. The retina comprises diverse differentiated neurons that have specific functions. Photoreceptor cells, the first-order neurons in the retina, have photopigments rhodopsin and opsin that absorb photons. Signals produced by the photoreceptor cells are transmitted to second-order neurons.

gene therapy surgeries to date for several types of inherited retinal disorders. “​X-linked retinitis pigmentosa related to the GTPase regulator (RPGR) gene is “​Bascom Palmer is the only U.S. site participating in these trials.

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.

Perspective on Genes and Mutations Causing Retinitis Pigmentosa

The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with EYS mutations in order to accelerate the development of outcome measures for clinical trials. San Francisco , California and other locations. The purpose of this study is to determine whether the structure and function of the human retina can be studied with high resolution in patients with inherited retinal degenerations using the Adaptive Optics Scanning Laser Ophthalmoscope AOSLO.

Displaying 1–10 of for “retinitis clinical trial” ProQR Receives Authorization to Begin Clinical Trial for Autosomal Dominant Retinitis Pigmentosa Treatment Release Date: June 5, Expiration Date: May 29, Welcome to the Foundation site — supported in partnership with Genentech, A Member of the.

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.

Participants will not know the contents of the supplement or the group to which they have been assigned until the end of the trial. In addition, computer-averaged Hz cone ERG amplitudes and visual acuity are measured annually. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below.

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

The University of Florida Academic Health Center – the most comprehensive academic health center in the Southeast – is dedicated to high-quality programs of education, research, patient care and public service. The College of Medicine , the largest of six colleges at the University of Florida Academic Health Center, opened in with a mission to increase Florida’s supply of highly qualified physicians, provide advanced health-care services to Florida residents and foster discovery in health research.

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Clinical and Rehabilitative Management of Retinitis Pigmentosa:Up-to-Date. Author(s): Katia De Nadai, Mario R. Romano, Andrea Binotto, Ciro Costagliola.

Researchers at Bascom Palmer Eye Institute, the Department of Ophthalmology at the University of Miami Miller School of Medicine, took part in the international multi-center study and are actively participating in further clinical trials. It’s the latest published study for the Bascom Palmer specialists who have performed nearly gene therapy surgeries to date for several types of inherited retinal disorders. Lam, M. Greene Professor of Ophthalmology, and Bascom Palmer’s principal investigator.

Bascom Palmer co-authors with Dr. Lam were Janet L Davis, M. Robert E. MacLaren of Oxford University led the study on this novel treatment. In addition, Dr. The mutation accounts for approximately 70 percent of all cases of X-linked retinitis pigmentosa, which causes night blindness in early childhood followed by progressive daytime vision loss. Since performing RPGR gene therapy surgery using an adeno-associated viral vector on one patient in the initial study, Dr. Davis and Dr.

Gregori have treated nine more patients using the optimized dosing determined from the initial trial. Those results have not yet been published.

AGTC’s retinitis pigmentosa gene therapy candidate shows positive 6-month results

This is caused by changes in the retina pigment and neural cells that line the back of the eye. RP is usually caused by an inherited genetic abnormality. The inheritance pattern can be dominant passed from one generation to the next , recessive an abnormal gene from 2 normal vision parents , or X-linked unaffected mother passes abnormal gene to affected son.

Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies perivascular sites, where they form melanin pigment deposits (Li et al., ). To date, mutations in more than 30 ciliary protein‒encoding genes have been​.

I lost most of my vision due to retinitis pigmentosa back in , when I was just 14 years old. Like many others my age, that was when I became interested in dating. When we first met at a music studio, I remember staring in the direction of his voice and straining my eyes. I was willing them to see what he looked like. Shockingly, I had no luck. I could hear it in his voice and feel it in his confidence.

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

Enthera is focused on developing first-in-class biologics to transform the treatment paradigm of specific autoimmune conditions by re-establishing stem cell capabilities in a non-traditional way. The Company is building a pipeline of inhibitory monoclonal antibodies mAbs and fusion proteins targeting the pathway via multiple angles. Ent is the only drug in development with the potential to restore the pancreatic beta cell compartment in type 1 diabetes as well as the original intestine structure in inflammatory bowel disease, in order to re-establish organ function.

Retinitis pigmentosa (RP) is a group of inherited progressive retinal It is progressive and potentially blinding, and to date, no cure for RP has been All the trials were based at a single study site, which also reduces genetic heterogeneity.

It is one of the conditions falling under the heading of Rod-Cone Dystrophy, genetic conditions in which the rod and cone cells in the eye deteriorate and die off. This means the retina does not react properly to the light that enters the eye and vision is impaired. How does your eye work? The eye is constructed of many different parts, all working together to ensure you can see properly.

The actual process of seeing is extremely complicated, but put simply, it all depends on light entering your eye and those light rays being sent to the brain, where the brain then processes the information it receives. The surface of your eye is covered with a transparent layer called the cornea. The cornea protects the delicate mechanism of your eye and is also largely responsible for refracting bending the rays of light as they enter your eye so you can focus properly.

Light enters your eye through the pupil, the small dark hole in the centre of your eye.

Living with Retinitis Pigmentosa: My RP Experience – Molly Burke