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 3x109 viral genomes per eye, medium dose 1x1010 viral genomes per eye, and high dose 3x1010 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 evaluating 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 12a multisite study aims to assess the safety, tolerability, and effects on visual function and retinal anatomy in approximately 54 participants. The study includes adults with various inherited retinal diseases such as retinitis pigmentosa and Usher syndrome. The study is divided into two parts Phase 1 involves a dose-escalation design with up to four dose levels of OpCT-001 given by subretinal injection to up to 24 legally blind participants. Phase 2 will enroll up to 15 participants per cohort in two cohorts to evaluate two selected dose levels from Phase 1. In Phase 2, participants will be randomized to one of the two doses, and masking applies to participants, investigators, and site personnel outside the surgical team. Participants will be closely monitored through Week 52 after treatment to assess safety and effects on vision and retinal structure using tests like spectral domain optical coherence tomography SD-OCT. Researchers will measure the incidence and severity of treatment-emergent adverse events and changes in retinal layer thickness. The study includes genetic confirmation of diagnosis, vision tests, retinal structure exams, and ongoing safety follow-up over approximately one year post-treatment.

Researchers are studying inherited eye diseases to identify the genes linked to their development. This research focuses on families from diverse backgrounds affected by conditions such as cataracts, corneal dystrophies, retinal degenerations, myopia, and glaucoma. The goal is to understand the genetic causes and how these mutations affect the eyes function. Participants will undergo detailed eye examinations, including pupil dilation and electroretinography, which measures eye function using electrodes and flashing lights. Blood and saliva samples will be collected for genetic testing and biochemical analyses. This study includes families with multiple affected members and uses advanced genetic sequencing techniques to identify mutations. Up to 5,000 participants may be enrolled. During one visit lasting 3 to 4 hours, participants will provide medical and family history, receive an eye exam, and have blood and saliva samples taken. Researchers will analyze genetic and clinical data to document inherited eye disorders. Some participants may discuss their genetic test results with the study team. The study will continue until 2032, with ongoing assessments to understand the genetic and clinical features of these eye diseases.

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 aim to learn more about the genes involved in inherited eye diseases by studying individuals who have a known or suspected genetic eye condition and their relatives. The study seeks to identify new genes related to these diseases and understand how symptoms may vary among people with similar genetic changes. This observational study also hopes to establish a detailed genetic and clinical database to support future treatment developments and research. Participants will undergo a comprehensive evaluation including medical history review, physical and eye exams, and blood sample collection. Depending on their condition, they may provide additional samples such as eye cell swabs or biopsies, skin biopsies, tears, urine, saliva, stool, hair, or cheek cell samples. Specialized eye tests such as retina imaging, eye movement evaluations, dye-based angiography, microperimetry, and color vision tests may be performed. Some participants may also undergo MRI scans and complete questionnaires to provide more information. During the study, participants will be closely examined and have various samples collected to support genetic analysis and research. Researchers will collect detailed clinical data through electronic medical records and other testing outcomes to identify disease-specific findings. The main goal is to establish a group of participants for ongoing genetic research. Participation may last several years, with ongoing data collection and optional procedures based on individual circumstances.

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.