Active clinical trials for "Cone-Rod Dystrophies"

Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and ophthalmologic exam under anesthesia to follow pigmentary retinopathy.

This is a two-step, multicenter, Phase I/II study including an open-label dose-escalation phase (Step 1) and a three-arm controlled double-masked randomized extension phase (Step 2), in subjects with advanced RCD due to a mutation in the RHO, PDE6A, or PDE6B gene.

Background: The retina is a thin layer of tissue at the back of the eye. Retinal disease usually reduces a person s mobility because it affects how he or she moves through familiar and unfamiliar environments. Researchers want to see if a virtual reality (VR) tool can provide an easier and more accurate way to assess mobility. Objective: To learn if researchers can track changes in mobility in people with retinal disease using a new VR tool. Eligibility: People aged 5 and older with retinal disease that affects their vision, and healthy volunteers. Design: Participants will have 2-3 clinic visits. Participants will wear goggles while sitting. Using a game controller, they will navigate through 4 obstacle courses presented in VR. Participants will have a medical history exam. They will answer questions about their family history. They will fill out questionnaires about the vision and mobility issues they have in their daily lives. Participants will have a complete eye exam. They will read letters from a chart. Their eye pressure will be measured. Their pupils may be dilated with eye drops. Pictures of their eye will be taken. Lights will be shined in their eyes. Participants will take a visual field test. For this, they will look into a dome and press a button when they see a light. Participants will have an electroretinogram. For this, they will sit in the dark with their eyes patched. Then their eyes will be numbed with eye drops and they will wear contact lenses while watching flashing lights. Participants will have optical coherence tomography. This is a noninvasive procedure. It produces cross-sectional pictures of the retina....

The goal of this study is to collect blood samples from the umbilical cords of newborn babies, as soon as they are delivered, and to place these samples in the MD Anderson Cord Blood Bank. Your sample may be included in the National Cord Blood Inventory (NCBI) which is part of the CW Bill Young Cell Transplantation Program. The NCBI is a federally-supported program to assist in the collection of cord blood. Cord blood will be made available to patients through The National Marrow Donor Program (NMDP). These samples may then be offered to MD Anderson and other institutions for patients who need a bone marrow transplant and do not have a donor. The MD Anderson Cord Blood Bank will have the rights to release cord blood units to these institutions around the world according to established bone marrow transplant donor criteria, for a fee to cover costs. Cord blood samples that are collected and then do not meet the clinical requirements for patient use may also be used at MD Anderson or other institutions either for research or for quality purposes to improve cord blood banking procedures. If not suitable for patient use or for research purposes, the cord blood unit may be thrown away.

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 objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement membrane or choroidal pathologies) to develop new diagnostic methods, biomarkers, and clinical endpoints.

The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.

Background: - People with rod-cone dystrophy (RCD) or enhanced S-cone syndrome (ESCS) have excess fluid under the retina of their eye. This can cause vision loss. The medicine interferon gamma-1b may help people with these diseases. Objectives: - To see if interferon gamma-1b eyedrops are safe for people with RCD or ESCS. To see if the medicine can decrease retina fluid and help prevent vision loss. Eligibility: - People at least 12 years old with RCD or ESCS. Those with ESCS must have two mutations in the NR2E3 gene. Design: Participants will be screened with medical history, physical exam, eye exam, and blood tests. Participants will stay at NIH for 3 days and get the first eyedrops. Participants will give themselves 4 study eyedrops 4 times daily for 2 weeks and keep a diary. Participants will have 5 outpatient visits over 8 weeks, 2 of which are telephone assessments. They may have: Repeats of screening tests. Questionnaires. Small piece of skin removed. Eye exams, including eye dilation and tasks on computer screens. Fluorescein angiography. A dye injected into an arm vein will travel to the blood vessels in the eyes. A camera will take pictures. Electroretinography. Participants will sit in the dark wearing eyepatches. A small electrode will be taped to the forehead. After 30 minutes, researchers will remove the eyepatches and put in numbing eyedrops and contact lenses. Participants will watch flashing lights. Electrooculography. Electrodes will be attached outside of the eyes and eye function will be measured in the dark and the light. Participants will have a follow-up visit after 52 weeks.

This study evaluates the safety and effectiveness of the Intelligent Retinal Implants System (IRIS V2). Blind patient suffering from Retinitis Pigmentosa, Cone Rod Dystrophy, or Choroideremia are implanted with an Intelligent Retinal Implant Systeme. All subjects undergo ophthalmological examinations in predefined intervals after implantation. Ophthalmological examinations include funduscopy, slit lamp examination and OCT. All adverse events are recorded and analyzed. Efficacy is measured using functional vision and visual function tests before and after implantation as well as with the system on and system off.

This study evaluates the safety and effectiveness of the Intelligent Retinal Implants System (IRIS V1)