View clinical trials related to Retinal Dystrophies.
Filter by:High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders. However, a large number of mutations are identified, mostly in introns of the genes, and in silico analysis are not sufficient to assign the pathogenicity of these mutations, without which the diagnosis confirmation cannot be done. For that purpose, a functional analysis of intronic variants of unknown significance detected in patients, with minigene splice assays in parallel with the analysis of the effect of the variant on splicing directly in the cells of the patient, by analyzing the RNA from leucocytes, fibroblasts, lymphoblastoïd cells or precursor of photoreceptor cells, which is the only proof of pathogenicity for variants
The Rothschild Foundation A Hospital follows a cohort of approximately 300 patients with hereditary retinal dystrophy. These patients are followed in ophthalmology consultation every year. In order to plan the MRI on the day of the annual consultation and to avoid additional travel for patients, patients will be informed of the study before the consultation (transmission of an information letter and the information note from study). If patients agree to participate in the study, rMRI will be scheduled. During the follow-up ophthalmologic consultation, after checking the inclusion and non-inclusion criteria, the study information will be repeated, and patients who still agree to participate will sign the study consent.
Background: ABCA4 retinopathy is a genetic disease in which the ABCA4 protein is absent or faulty. It can cause waste material to collect in the eye and may cause cells to die. The cell death can lead to vision loss. Researchers want to see if an oral drug called metformin can help. Objective: To see if metformin is safe and possibly helps to slow the rate of ABCA4 retinopathy. Eligibility: People age 12 and older who have ABCA4 retinopathy and have problems with their vision. Design: Participants will be screened under a separate protocol. Participants will have a medical and family history. They will complete a questionnaire about their vision and daily activities. They will have a physical exam. They may have blood drawn through a needle in the arm. Participants will have an eye exam. Their pupils may be dilated with eye drops. Their retina may be photographed. Participants will have a visual field test. They will sit in front of a large dome and press a button when they see a light within the dome. Participants will have an electroretinogram. It examines the function of the retina. They will sit in the dark for 30 minutes. Then their eyes will be numbed with eye drops. They will wear contact lenses that can sense signals from the retinas. They will watch flashing lights. Participants will have optical coherence tomography. This non-invasive procedure makes pictures of the retina. Participants will have fundus autofluorescence. A bright blue light will be shone into their eye. Participants will take metformin by mouth for 24 months. Participants will have study visits every 6 months. Participation will last for at least 36 months....
The purpose of this study is to provide safety and efficacy data for voretigene neparvovec, administered as subretinal injection, in Japanese patients with biallelic RPE65 mutation-associated retinal dystrophy.
The aim of this study is to determine if umbilical cord Wharton's jelly derived mesenchymal stem cells implanted in sub-tenon space have beneficial effects on visual functions in retinitis pigmentosa patients by reactivating the degenerated photoreceptors in dormant phase.
Purpose: To establish of the national Inherited Retinal Dystrophy Registry (IRDR) in Iran. Methods: This study is a community-based participatory research that is approved by the Ministry of Health and Medical Education of Iran in 2016. To provide the minimum data set (MDS), several focus group meetings will be held with participation of the faculty members of the Ophthalmic Research Center affiliated to Shahid Beheshti University of Medical Sciences (SBMU). Final MDS will be presented to the software engineering team to develop a web-based software. In the pilot phase, software will be set up in two referral centers including Labbafinejad Medical Center (Tehran) and Alzahra Eye Hospital (Zahedan) to discover the possible drawbacks. Final diagnosis will be made based on both clinical manifestations as well as genetic findings.The steering committee meetings are planned to be held each year with the presence of delegates of all centers.
This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. Single injections will be assessed in an open label way, and repeat injections will be assessed in a double-masked, randomized, sham-controlled fashion.
The aim of this study is to evaluate the efficacy and safety of oral minocycline (100mg/d), administered for 6 months, for the treatment of patients with retinitis pigments(RP).
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
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").