Choroideremia

Researchers are evaluating the use of LX107, a gene therapy drug, in patients with retinal dystrophy caused by mutations in the AIPL1 gene. This early phase 1 clinical trial aims to assess the safety and effectiveness of this treatment for individuals aged 4 years and older who have a confirmed diagnosis of this inherited retinal disease. The study is sponsored by Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine. Participants will receive a single subretinal injection of LX107 in one eye, designated as the study eye. The study includes three dose groups: low dose (3x10^9 viral genomes per eye), medium dose (1x10^10 viral genomes per eye), and high dose (3x10^10 viral genomes per eye). Treatment will be administered on Day 0, and patients will be monitored closely throughout the study. During the study, participants will undergo evaluations such as functional MRI scans, mobility tests, full-field sensitivity threshold tests, visual acuity assessments, and visual field measurements at 6 and 12 months after treatment. Safety will be closely monitored by tracking treatment-emergent adverse events over 6 months. Participants will also be followed long-term according to the study protocol to assess treatment effects and safety over time.

Researchers are studying OpCT-001, a cell therapy made from photoreceptor precursor cells derived from human induced pluripotent stem cells (iPSCs), in adults with primary photoreceptor disease. This Phase 1/2a study aims to evaluate the safety, tolerability, and effects of OpCT-001 on visual function, functional vision, and retinal structure in about 54 adults with confirmed genetic diagnoses of photoreceptor diseases such as retinitis pigmentosa and Usher syndrome. The study is divided into two parts. Phase 1 involves up to 24 legally blind participants receiving OpCT-001 at up to 4 different dose levels via subretinal injection, using a dose-escalation design. Phase 2 will enroll up to 30 participants randomized to two dose levels selected from Phase 1 data, with masking applied to participants and most study staff. Both phases focus on monitoring safety and assessing effects on vision and retinal anatomy. Participants will receive OpCT-001 through subretinal injections and be followed for up to 52 weeks to monitor treatment-emergent adverse events and changes in retinal layer thickness using imaging methods like spectral domain optical coherence tomography. Visual acuity and retinal structure will be assessed regularly. The study includes genetic confirmation of disease, eye exams, and ongoing safety monitoring, with the total participation duration spanning about one year after treatment.

Researchers are studying inherited eye diseases, including both congenital and age-related conditions, to better understand the genes involved and how these genetic changes affect the eye. The study includes families and individuals from diverse backgrounds who have or are related to someone with inherited eye diseases such as cataracts, corneal dystrophies, retinal degenerations, myopia, and glaucoma. This observational study aims to identify specific genes and the biological processes linked to these eye conditions. Participants will have one visit lasting 3 to 4 hours during which they will undergo a detailed eye exam including pupil dilation, electroretinography, blood tests, and saliva collection for genetic testing. Researchers will analyze genetic material from blood or saliva to find mutations associated with inherited eye diseases. Some participants may also discuss their genetic test results with the study team. During the visit, participants' medical and family histories will be reviewed, and several assessments will be conducted to characterize their eye health. The study measures clinical and genetic features of visual disorders using various genetic and biochemical analyses. Participation involves only one visit, and safety is monitored by excluding those with infections or conditions that mimic inherited eye diseases. The research may continue reviewing genetic data until 2032.

Researchers are evaluating the operational feasibility and measurement properties of various visual function assessments for patients with moderate to profound inherited retinal diseases, including Retinitis Pigmentosa and other retinal dystrophies. The study focuses on tests sensitive to peripheral vision and functional abilities such as spatial orientation, mobility, and wayfinding. This observational, non-interventional research aims to improve and standardize efficacy endpoints for people with low vision. Participants include up to 50 patients divided into two groups: those with Retinitis Pigmentosa and those with other retinal dystrophies. The study does not involve treatment but assesses visual function through a battery of tests over time. The primary outcome is the feasibility of testing patients with moderate to profound vision impairment within three months, with secondary outcomes measuring patient- and assessor-based properties of each test modality over two years. During the study, participants will undergo various visual assessments designed to reflect real-life visual challenges. Researchers will collect data on the reliability and sensitivity of these tests. The study spans up to two years, emphasizing long-term evaluation of measurement tools. Participants' safety and compliance will be monitored, and the study supports the development of better testing methods for low vision conditions.

Researchers are evaluating the use of objective perimetry with a chromatic multifocal pupillometer to monitor visual field defects in patients with retinal dystrophy and glaucoma. The study aims to assess the pupil light reflex (PLR) response to short and long wavelength light stimuli, comparing these measures between affected patients and healthy participants. This observational study focuses on improving the accuracy of detecting visual field defects using an advanced, computerized infrared video pupillometer. The pupillometer measures changes in pupil diameter in response to 76 small spot stimuli across a 30-degree visual field. The stimuli consist of short- and long-wavelength lights with peaks at 485 nm and 620 nm, respectively, presented at varying intensities and durations. The study includes three groups: healthy subjects as controls, patients with glaucoma, and patients with retinal dystrophy. The PLR responses are recorded during a single visit. Participants are involved in one visit where their pupil responses to light stimuli are measured. Assessments include recording the amplitude and latency of the PLR to evaluate differences in pupil reflex between healthy individuals and those with eye conditions. Researchers also monitor participant safety by excluding those with conditions that affect pupil measurement accuracy. Study participation ranges from 18 to 80 years of age, and participants provide informed consent before joining.

This research focuses on inherited retinal dystrophies (IRDs), a group of eye conditions where cone cells in the retina lose their ability to sense light but may remain alive in a dormant state. The study aims to prepare for the first human trial of cone optogenetics, a technique to restore vision by reactivating these dormant cones. To do this, researchers are conducting a worldwide multicenter imaging study called EyeConic to identify eligible patients and estimate how many low vision patients have remaining cone cells. The study uses macular optical coherence tomography (OCT), a detailed imaging method of the retina, to gather data from both patients with IRDs and control participants with normal eye health. This observational study involves collecting and analyzing OCT images to assess central retinal volume and identify the presence of dormant cones. No treatments or interventions are given, as the study focuses on imaging and data collection. Participants will undergo OCT imaging to measure their retinal structure, particularly central retinal volume, which is the primary outcome. Researchers will review this baseline data to understand the proportion of patients with surviving cone cells. The study includes both patients with low vision due to IRDs and healthy controls. Participation involves one imaging session lasting about 10 minutes. The study is ongoing with an expected completion by December 2026.

Researchers are studying inherited eye diseases to identify the genes involved and understand how symptoms vary among people with similar genetic changes. The study aims to gather detailed genetic information and clinical data to support the development of precise treatment and prevention strategies for vision-threatening conditions. This research is also designed to help establish protocols for specific inherited eye disorders and serve as a referral center for undiagnosed genetic eye diseases. Participants include individuals with known or suspected inherited eye diseases and their unaffected relatives. All participants undergo a medical history review, physical exam, and eye exam, along with blood or saliva sample collection. Some may also provide additional biological samples such as skin biopsies, eye cell samples, tears, urine, saliva, stool, hair, or cheek cells. Various specialized eye tests may be performed, including retina tests, eye movement tests, fluorescein angiography, microperimetry, and color vision assessments. Optional procedures may include MRI and completion of questionnaires. Throughout the study, participants’ clinical data, eye exam results, and biological samples will be collected and analyzed. Outcome measures focus on establishing a study cohort and identifying the best clinical variables to measure treatment effects. The study also aims to reveal related health conditions, collect research samples, and determine the genetic causes of inherited eye diseases. Participation involves ongoing evaluations, with data securely stored and used to support future research. The study is open to participants aged 1 to 120 years and includes both affected individuals and healthy volunteers related to them.

Researchers are studying the detailed structure and function of the normal and diseased retina to improve detection, diagnosis, and treatment of retinal diseases like Stargardts, Retinitis Pigmentosa, Age-related Macular Degeneration, Choroideremia, and Geographic Atrophy. The study uses a special imaging tool called an adaptive optics scanning laser ophthalmoscope (AOSLO) to capture high-resolution images of the retina at a cellular level. The main goal is to compare these images between people with and without retinal diseases by examining cell density, size, spacing, and the arrangement of the cone photoreceptor mosaic and other retinal layers. Participants include two groups: one with retinal degeneration and vision abnormalities, and a control group without these conditions. Both groups undergo retinal imaging procedures such as adaptive optics imaging, optical coherence tomography, and fundus photography. Vision tests including microperimetry, visual fields, and visual acuity assessments are also performed. The study mainly involves an initial visit lasting one day for these imaging and vision assessments. During their participation, subjects will have their retina imaged with the AOSLO and other imaging methods to produce detailed pictures of retinal cells and layers. Researchers will analyze these images to study differences in retinal structure. Measurements like cone mosaic parameters are taken during the initial visit. The study allows for long-term follow-up with participants aged 7 and older to understand retinal changes over time. All procedures are non-invasive and carefully monitored by study personnel.

Researchers are studying people affected by rare inherited retinal degenerative diseases through the My Retina Tracker Registry. Sponsored by the Foundation Fighting Blindness, this observational study aims to better understand the diversity, prevalence, and natural history of these diseases and gene variants. It also seeks to support research and clinical trials by collecting detailed patient and clinical information over time. Participants create an online profile via a secure portal where they share their own perspective on their retinal disease, including family history, genetic test results, and general health. They can also invite their clinicians to add clinical exam data after each visit to build a comprehensive longitudinal record. The registry uses standardized data entry to maintain consistency and allows participants to compare their data with others. During the study, participants regularly update their profiles with personal and clinical information. Researchers measure the number of participants with rare diagnoses within the inherited retinal degenerative disease category, tracking data for up to 20 years. The registry supports recruitment for research while protecting patient privacy. Participation involves ongoing data entry and clinical updates, contributing to a better understanding of these rare eye diseases.

Researchers are evaluating the use of subthreshold micropulsed laser treatment to reduce macular edema in patients with inherited retinal dystrophies, a group of rare eye diseases that cause progressive vision loss. Macular edema can worsen vision in these patients, and current treatments like diuretics and injections have limitations and potential side effects. This study seeks to determine if micropulsed laser therapy, which uses low energy to avoid retinal damage, can help resolve this condition. The treatment uses a specific micropulsed laser device with defined power, pulse duration, and spot size settings. Patients receive laser treatment on the first visit, with possible repeat treatments between 3 and 12 months based on response. This prospective, open-label study enrolls patients who have persistent macular edema despite prior treatments such as diuretics or anti-VEGF injections. Participants will be followed for up to 24 months with scheduled visits at 1, 3, 6, 9, 12, 18, and 24 months after treatment. At these visits, comprehensive eye exams will be performed including OCT imaging, electroretinograms, and retinography. Researchers will measure changes in central retinal thickness and assess visual acuity, retinal function, and blood flow to evaluate treatment effects and safety over time.