View clinical trials related to Retinitis.
Filter by:Ophthalmological screening for cytomegalovirus retinitis (CMVR) for HIV/AIDS patients is important. However, the manual screening with fundus imaging is laborious and subjective. Deep learning (DL) system has been developed for the automated detection of various eye diseases with high accuracy and efficiency, including diabetic retinopathy, glaucoma, age-related macular degeneration (AMD), papilledema, lattice degeneration and retinal breaks, from ocular fundus photographs. UWF imaging is a relatively new imaging modality for DL system but has also shown extraordinary talents in automatic retinal analysis With the press for routine CMVR screening in AIDS patients and the great capacity of DL system, the use of deep learning (DL) system to AIDS-related CMVR with Ultra-Widefield (UWF) fundus images is promising. The investigators previously developed a DL system to detect AIDS-related CMVR. For further evaluating the applicability of the DL system, a prospective dataset is needed.
Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness. Patients with Usher syndrome are hearing impaired or profoundly deaf from birth and this can be rehabilitated with hearing aids or a cochlear implant. Furthermore, these patients develop retinitis pigmentosa (RP), a slowly progressive type of retinal degeneration that usually starts in the first or second decade of life. In both USH2A and nsRP patients the disease leads to severe visual impairment and eventually blindness around the 50th-70th year of life. There are no treatment options for the retinal degeneration. We do not know if they also suffer from balance complaints. Currently, genetic therapy for Usher syndrome type 2 and USH2A associated nsRP is in development. But to measure the effect of a (genetic) therapy, it is crucial to know the detailed natural course of the visual and hearing deterioration over time. Several genetic therapy studies for other disorders are currently delayed, because the natural history of the disease has not been studied in detail previously. The main objective is to map the natural course of the visual and hearing deterioration in Usher Syndrome 2 and USH2A associated nsRP for upcoming genetic therapy studies. Secondary objectives are: 1) To determine the necessary type of (combined) examinations, the sample size and length of studies (in years) essential to evaluate future genetic therapy in Usher syndrome. 2) To improve counselling of patients with Usher syndrome type 2 and USH2A associated nsRP with detailed information on the prognosis. 3) To identify additional etiological factors that explain variability in hearing impairment by adding questionnaires and psychophysical audiometric tests; and to assess the vestibular phenotype in Usher syndrome type 2 and USH2A associated nsRP patients. This is a longitudinal, prospective natural history study. The study population consists of healthy human volunteers, 16 - 55 yr old with a confirmed genetic diagnosis of Usher Syndrome type 2 or and USH2A associated nsRP. The main study endpoint is the natural course of the visual and hearing deterioration in Usher Syndrome type 2 and USH2A associated nsRP, over a time span of 4 years. There are no risks associated with participation.
Observational study of patients with retinitis pigmentosa type 11
A clinical trial of AAV5-hRKp.RPGR vector for participants with X-linked retinitis pigmentosa (XLRP)
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.
Retinitis pigmentosa (RP) is the most common hereditary retinal disorder (accounts for 20% of children attending blind schools in Pakistan) which causes degeneration of rod and cone photoreceptors. Rods and cones largely depend on the retinal pigment epithelium for their proper functioning. Various growth factors and their receptors are present in retinal epithelium and a number of genes are responsible for the production of these growth factors. Genetic mutation in any of these genes causes retinal degeneration by progressive loss of retinal pigment epithelium and photoreceptors. The disease initially starts with night blindness and leads to the loss of central vision and eventually total blindness. To date, there is no definitive cure for patients suffering from RP. Recently, stem cell based therapies have shown great promise for the management of RP. It is well documented that umbilical cord derived mesenchymal stem cells (UMSCs) have the ability to release various paracrine and immunomodulatory factors that are similar to those synthesized by retinal pigment epithelium. Multiple routes including systemic (intravenous) and localized (subretinal, intravitreal, suprachoroidal and sub-tenon) have been employed to administer UMSCs for the management of RP. It is important to note that deep sub-tenon region (space between the sclera and the conjunctiva) acts as both natural culture medium for cells and as immune privileged site because of avascularity of the region. It has been reported that the injection of UMSCs in sub-tenon space of human subjects have improved the visual acuity even after 1 year post-injection. In addition, the injection of UMSCs in suprachoroidal space enhances the entry of growth factors released by the cells into choroidal flow and maintain the constant growth factors secretion to the choroidal and retinal tissues. Limoli and colleagues were the first to report the suprachoroidal administration of cells being the safe mode of cell delivery with no complications. The present study is aimed to investigate the safety and therapeutic efficacy of UMSC injection employing two different routes (sub-tenon injection versus suprachoroidal injection) for the treatment of RP in human subjects.
Blindness can be caused by many ocular diseases, such as diabetic retinopathy, retinal vein occlusion, age-related macular degeneration, pathologic myopia and glaucoma. Without timely diagnosis and adequate medical intervention, the visual impairment can become a great burden on individuals as well as the society. It is estimated that China has 110 million patients under the attack of diabetes, 180 million patients with hypertension, 120 million patients suffering from high myopia and 200 million people over 60 years old, which suggest a huge population at the risk of blindness. Despite of this crisis in public health, our society has no more than 3,000 ophthalmologists majoring in fundus oculi disease currently. As most of them assembling in metropolitan cities, health system in this field is frail in primary hospitals. Owing to this unreasonable distribution of medical resources, providing medical service to hundreds of millions of potential patients threatened with blindness is almost impossible. To solve this problem, this software (MCS) was developed as a computer-aided diagnosis to help junior ophthalmologists to detect 13 major retina diseases from color fundus photographs. This study has been designed to validate the safety and efficiency of this device.
A clinical trial of AAV5-RPGR vector for participants with X-linked retinitis pigmentosa (XLRP)
Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision. Retinitis pigmentosa (RP) is a major cause of untreatable blindness associated with CNGB1 (CNGB1-RP). RP involves the death of photoreceptor cells that can be caused by mutations in a number of different genes. Treatment by gene therapy could prevent blindness in cases of inherited retinal dystrophies including RP. In the future RP due to mutations in CNGB1 may be treatable by gene therapy since this form of photoreceptor degeneration involves a slow loss of rod photoreceptor cells. This provides a wide window of opportunity for the identification of patients and initiation of treatment. Our efforts are directed toward developing gene therapy as a treatment. To this end, our objective is to better understand the disease process of CNGB1-RP and other allied inherited disorders so that we can develop clinical tests to measure the outcomes of treatment.
The study will provides the enrollment of patients with genetic retinal dystrophies with primary rod impairment and dry age-related macular degeneration (Geographic type) A subretinal injection of umbilical cord blood platelet-rich plasma (CB-PRP) will be performed only in one eye, the other eye will be considered as a control group. A complete morpho-functional ophthalmological evaluation will be performed in all patients at each control.