View clinical trials related to Retinitis Pigmentosa.
Filter by:The PDE6A gene encodes a subunit of the rod phosphodiesterase. The loss of this enzyme function leads to a chronically elevated cGMP level which causes an increased calcium inflow into the cell and thereby the hyperactivation of cell death pathways. The goal of the PIGMENT study is to develop, produce and investigate a recombinant adeno-associated viral (AAV) gene transfer vector for the curative therapy of PDE6A-linked retinitis pigmentosa in patients, in order to counteract their disease progression and to stop further impairment of visual function. The vector is given with a single subretinal injection.
The primary objective of the study is to assess the safety of repeat injection of human retinal progenitor cells (jCell) in adult subjects with RP that have previously been treated with jCell.
This study will assess the progression of RP as seen on newer modalities including spectral-domain optical coherence (SD-OCT) and macular assessment integrity (MAIA) microperimetry to evaluate disease status. Understanding the natural history of the disease is not only essential to monitoring and comparing patient populations in clinical trials. It is also fundamental in the predevelopment phase in order to optimize the study duration needed to observe a statistically significant outcome. Furthermore, since the progression of RP is usually slow, relying on traditional tests can take an unfeasible length of time to observe any meaningful changes and assess therapeutic efficacy for new drugs. Therefore, the results of this study will be beneficial in establishing reliable endpoints and outcome measures for future clinical trials. Such outcome measures may be able to detect treatment response with more precision. More importantly, investigators may be able to detect changes early enough to prevent irreversible vision loss.
Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention. Methodology: This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.
This is a Phase 1/2 multicenter study with two parallel parts: an observational natural history cohort and an open-label, prospective interventional trial in males with non-syndromic X-linked retinitis pigmentosa (XLRP) due to mutations in the gene encoding retinitis pigmentosa GTPase regulator (RPGR).
the incidence of the disease of retinal degenerations with loss of photoreceptors (related to old age or genetic) on patients' daily lives, is poorly characterize without standardized means of measurement (usually performed with functional vision or reading tasks). self-assessment by a quality of life questionnaire correlated with an assessment of emotional state and direct observation of patients during daily life tasks are the two ways used in a scientific framework to collect data on the difficulties encountered by patients in their daily life. The aim of this project is to determine the behavioral effects of retinitis pigmentosa (RP) by the effects of performance reductions related to adapting to darkness and visual field restriction. Those assessments will be in real conditions but also in virtual reality (VR). This tool can be used to measure a therapeutic benefit for new treatments (like gene therapy, retinal implants, intra vitreous injections …) for visual loss patients.
Retinitis Pigmentosa is characterized by a progressive disappearance of photoreceptors, responsible for a progressive and severe loss of vision. People Retinitis Pigmentosa therefore encounter a large number of difficulties in daily life, specifically for: - Visual research - Visuo-motor coordination in tasks requiring fine motor control - Visuo-motor coordination in mobility tasks This study aims to assess the difficulties in the daily life of subjects with Retinitis Pigmentosa at a very advanced stage unsing, quaify of life questionnaires, simplified locomotion tasks in real situation and a posture task. They are proposing a new test adapted and carried out in real situations, in binocular and monocular vision, making it possible to finely assess locomotion especially for "very low vision" patients. This test will also ultimately make it possible to better evaluate the effectivements, that is to say to observe and quantify objectively by a score the performance progression obtained for locomotion tasks related to the visual recovery generated by the treatment.
To communicate with the observer and guide his gaze on the canvas, painters have developed different stylistic processes that artists, in the manner of scientists, have acquired on the functioning of human visual perception. This direct communication between the artist and the observer is strongly impacted for people with visual impairments. In order to improve the accessibility and autonomy of visually impaired people in museums and to allow each observer to feel the visual and emotional experience closest to the original work of the artist, it is essential to identify the modifications. perceptive generated by the constriction of vision
This study is driven by the hypothesis that navigation for users of retinal prosthetics can be greatly improved by incorporating Spatial Localization and Mapping (SLAM) and object recognition technology conveying environmental information via a retinal prosthesis and auditory feedback. The investigators will study how effectively the SLAM technology enables the visual prosthesis system to construct a map of the user's environment and locate the user within that map. The technology will be tested both with normally sighted individuals donning a virtual reality headset and with retinal prosthesis users (Argus II).
The hypothesis of this study is to determine if there is a benefit afforded by the use of systemic Sildenafil to patients with choroidal and retinal degenerations and dystrophies, such as vitelliform degeneration, dry and reticular age-related macular degeneration (AMD) as well as patients with hereditary and acquired retinal dystrophies such as retinitis pigmentosa and central serous retinopathy.