View clinical trials related to Retinal Degeneration.
Filter by:The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.
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.
An observational study to evaluate the natural progression of dry AMD in genetically defined subjects
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound heterozygous mutation involving c.2991+1655A>G in intron 26 of the CEP290 gene ("LCA10-IVS26").
This is an open label first in human Phase I/II multicentre study of GT005 in subjects with Macular Atrophy due to AMD
The overall goal of this project funded by the Foundation Fighting Blindness 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).
Background: - The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Researchers want to look at blood and skin samples from people with ABCA4 gene mutations to study related eye diseases. Objectives: - To study eye diseases that are related to mutations in the ABCA4 gene. Eligibility: - Individuals at least 12 years of age who have ABCA4 gene mutations. Design: - The study requires 12 visits to the National Eye Institute clinic over 10 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 9 more years. - Participants will be screened with a physical exam, full eye exam, and medical history. The eye exam will check eye pressure, light and color sensitivity, and retina function. - Participants will provide a blood sample and a skin tissue sample for study. - No treatment will be provided as part of this study.
The general area of research in which this project has been designed is that of retinal degeneration related to mutations in the ABCR gene, responsible of Stargardt disease/fundus flavimaculatus retinal dystrophy (STD/FF). STG/FF is one of the major causes of vision impairment in the young age. STG/FF originates typically from the dysfunction and loss of cone and rod photoreceptors, developing through a photo-oxidative mechanism. The major disease locus is the central retina, i.e. the macula, whose neurons have the highest density and underlie critical functions such as visual acuity, color vision and contrast sensitivity. There is currently no cure for STG/FF. Recent experimental findings indicate that Saffron, derived from the pistils of Crocus Sativus, may have a role as a retinal neuro-protectant against oxidative damage. The stigmata of Crocus sativus contain biologically high concentrations of chemical compounds including crocin, crocetin, whose multiple C=C bonds provide the antioxidant potential. In addition it is well known that this compound is safe and free of adverse side effects. The aim of this research is to investigate the influence of short-term Saffron supplementation on retinal function in STG/FF patients carrying ABCR mutations. The macular cone-mediated electroretinogram (ERG) in response to high-frequency flicker (focal flicker ERG) will be employed as the main outcome variable. Secondary outcome variable will be the psychophysical cone system recovery after bleaching.