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Retinitis Pigmentosa clinical trials

View clinical trials related to Retinitis Pigmentosa.

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NCT ID: NCT03146078 Recruiting - Clinical trials for Usher Syndrome, Type 2A

Rate of Progression in USH2A Related Retinal Degeneration

Start date: June 2017
Phase: N/A
Study type: Observational

The overall goal of this project is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

NCT ID: NCT03116113 Recruiting - Clinical trials for X-Linked Retinitis Pigmentosa

A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa

Start date: March 16, 2017
Phase: Phase 1/Phase 2
Study type: Interventional

A clinical trial of AAV-RPGR retinal gene therapy for patients with X-linked retinitis pigmentosa

NCT ID: NCT03078309 Not yet recruiting - Clinical trials for Retinitis Pigmentosa

The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients

Start date: September 2017
Phase: Early Phase 1
Study type: Interventional

Medical Marijuana is used widely, and its effects on the visual system and the function of the retina have not been investigated thoroughly. Some evidence suggests that cannabinoids may be beneficial in certain degenerative diseases of the retina. The purpose of the study is 1. To determine whether cannabis derivatives affect the visual functions in healthy adults 2. To examine the effect of cannabis derivatives on the retina of retinitis pigmentosa patients

NCT ID: NCT03073733 Recruiting - Clinical trials for Retinitis Pigmentosa

Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa

Start date: March 1, 2017
Phase: Phase 2
Study type: Interventional

This study evaluates the changes in visual function at 12 months following a single injection of human retinal progenitor cells compared to untreated controls in a cohort of adult subjects with RP.

NCT ID: NCT03063021 Recruiting - Clinical trials for Retinitis Pigmentosa

The FIGHT-RP1 Study

Start date: February 15, 2017
Phase: Phase 1
Study type: Interventional

Retinitis Pigmentosa (RP) is a devastating eye disease and at present there are no known treatment options that can alter the rate of vision loss. In a series of studies in animal models, the effects of exposing cones in the periphery of the retina to a large excess of oxygen results in progressive oxidative damage to cone photoreceptors and cone cell death. Compared to control patients, those with RP showed significant reduction in the reduced to oxidized glutathione ratio (GSH/GSSG) in aqueous humor and a significant increase in protein carbonyl content. This demonstration of oxidative stress and oxidative damage in the eyes of patients with RP, suggests that oxidative damage-induced cone cell death in animal models of RP may translate to humans with RP and support the hypotheses that (1) potent antioxidants will promote cone survival and function in patients with RP and (2) aqueous GSH/GSSG ratio and carbonyl content on proteins provide useful biomarkers of disease activity in this patient population. Orally administered N-Acetylcysteine (NAC) has been found to be a particularly effective antioxidant that promotes prolonged cone survival and maintenance of cone function in a mouse model of RP. There is good rationale to test the effect of NAC in patients with RP. The first step is to do test different dosing regimens to identify the lowest dose that is able restore aqueous GSH/GSSG ratio and reduce carbonyl adducts on aqueous proteins. In patients with Idiopathic Pulmonary Fibrosis, polymorphisms within the TOLLIP gene were found to influence outcomes of NAC-treated patients. The product of the TOLLIP gene, toll-interacting protein, is an inhibitory adaptor protein downstream of toll-like receptors, mediators of innate and adaptive immunity. The identification of the influence of TOLLIP polymorphisms on the effect of NAC in Idiopathic Pulmonary Fibrosis provides rationale for collecting DNA and genotyping the same single nucleotide polymorphisms (SNPs) in the current trial. In addition to this candidate gene genetic analysis, patient RNA will be collected and banked for future transcriptome analysis. The rationale for this is to identify gene expression changes that modify disease progression in RP. There is substantial variability in rate of progression among patients with RP. A patient who loses all vision early in life can have a sibling with the same mutation who maintains vision into advanced age. This suggests that modifier genes can have a major impact on cone survival. This study will test the hypothesis that the level of expression of gene products that contribute to the antioxidant defense system may influence cone cell death and hence the rate of loss of visual field. It is also possible that gene expression differences may contribute to differences in response to NAC. For these reasons collecting RNA samples from patients will allow next generation sequencing in the future to understand the transcriptome background on which the study intervention has been performed.

NCT ID: NCT03057496 Not yet recruiting - Glaucoma Clinical Trials

Collision Warning Device for Blind and Visually Impaired

Start date: August 2017
Phase: N/A
Study type: Interventional

This study evaluates a novel collision warning device to help people with severe vision impairment or blindness avoid collisions with obstacles. The main hypothesis to be tested is that the device reduces the number of collisions with obstacles in everyday activities.

NCT ID: NCT03011541 Recruiting - Glaucoma Clinical Trials

Stem Cell Ophthalmology Treatment Study II

Start date: January 2016
Phase: N/A
Study type: Interventional

This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.

NCT ID: NCT02926092 Terminated - Clinical trials for Retinitis Pigmentosa

Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)

Start date: October 31, 2016
Phase: N/A
Study type: Observational

The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.

NCT ID: NCT02909985 Completed - Clinical trials for Age Related Macular Degeneration

Visual Activity Evoked by Infrared in Humans After Dark Adaptation

Start date: September 2015
Phase: N/A
Study type: Interventional

This pilot study will evaluate the visual response to infrared (IR) in humans after dark adaptation. The investigators plan to determine which wavelength and intensity the human eye is most sensitive too, using a broad spectrum light source and wavelength-specific bandpass filters. The investigators will then evaluate the electrophysiologic response in healthy humans to IR, followed by studies in those with specific retinal diseases. The long-term goal of this research is to better understand the role that IR plays in visual function, and whether this can be manipulated to allow for vision in certain retinal pathologies that result from loss of photoreceptor cells. The investigators central objective is to test the electrophysiologic response to IR in the dark-adapted retinal and visual pathways. The investigators central hypothesis is that IR evokes a visual response in humans after dark adaptation, and the characteristics of this response suggest transient receptor potential (TRP) channel involvement. The investigators rationale is that a better understanding of how IR impacts vision may allow for an alternative mechanism for vision in a number of diseases that cause blindness from the degradation or loss of function of photoreceptor cells. The investigators will test the investigators hypothesis with the following Aims: Aim 1: To determine the optimal IR wavelength for visual perception in dark-adapted human participants. The investigators hypothesize that the healthy human eye will detect IR irradiation, with a maximum sensitivity at a specific wavelength. Using a broad-spectrum light source with wavelength-specific bandpass filters, the spectral range of visual perception to IR will be evaluated. The same will be done on colorblind participants. Aim 2: To test the electrophysiologic response to IR in healthy humans after dark adaptation. The investigators hypothesize that IR will elicit an amplitude change on electroretinography (ERG) and visual evoked potential (VEP) responses after dark adaptation in healthy human participants. Participants will be tested with both test modalities to evaluate their response to IR. Aim 3: To test the electrophysiologic response to IR after dark adaptation in humans with certain retinal diseases. Participants with retinitis pigmentosa, age related macular degeneration and congenital stationary night blindness, will be tested. Results will be compared to baselines and to those of healthy participants. The investigators hypothesize that there will be a response to IR on ERG and VEP, which will provide clues to the retinal cell layer location of the response to IR and the nature of potential TRP channel involvement.

NCT ID: NCT02860520 Recruiting - Clinical trials for Retinitis Pigmentosa

Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.

Start date: September 2015
Phase: N/A
Study type: Observational

The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. These rare diseases are characterized by a triple heterogeneity (clinical, genetic and molecular), which made them unreachable by traditional molecular diagnostic sequencing technology by the large number of genes to be tested (> 190). The advent of high-throughput sequencing (NGS) and targeted capture has opened unexpected possibilities of investigation and ultimately to improve the care of patients. This project aims to study the genetic and molecular epidemiology of an interregional french (grand EST) cohort of patients. Patients receive a detailed retinal phenotype (visual acuity, visual field, photographs of the fundus and ERG). Their DNA will be analyzed by NGS targets the 190 known genes ( This research will provide a molecular epidemiological cohort study compared to prior publications on the frequency of genes involved. The benefit for patients is important to: establish a mode of transmission of the disease and optimize genetic counseling (currently very empirical); establish phenotype-genotype correlations in the French population (very few studies to date) and from the data of international literature; identify patients likely to be included in future therapeutic protocols of research; identify patients with significant potential for future projects to identify new genes. The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP. The secondary purposes will be the following: - Determining the diagnostic yield - Study the genotype-phenotype correlation. The secondary purposes will be the following: - Determining the diagnostic yield - Study the genotype-phenotype correlation