24 Clinical Trials for Various Conditions
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases. Objective: To collect information and DNA samples for the study of eye diseases. * Primary objective --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual * Secondary objectives * To enhance recruitment for clinical trials and investigations in inherited eye diseases * To establish genotype-phenotype correlations for rare eye diseases Eligibility: People of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed. Design: Researchers will select participants based on their diagnosis. The data may include images and test results from eye exams. Participants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH. Participants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic. The eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.
Background: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Objective: To try to identify the genes linked to the development of inherited eye diseases. Eligibility: People ages 4 and older who have or have a family member with an inherited eye disease Design: Participants will be screened with medical history and medical records. Participants will have one visit that will take 3-4 hours. This will include: Medical and family history Eye exam: This includes the pupil being dilated. Electroretinography: A small electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in the eyes. They will watch flashing lights. Blood tests Saliva sample: They will spit into a container or have the inside of their cheek swabbed. Genetic testing will be done on participants blood or saliva. Participants may meet with the researchers to discuss their genetic tests. ...
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes. Objective: To learn more about genes involved in eye diseases. Eligibility: People who have a known or suspected inherited eye disease, and their relatives. Design: * All participants will have a medical history, physical exam, and eye exam. They may have blood taken. * Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure. * Participants may have a skin biopsy. A (Omega)-inch piece of skin will be removed. * Participants may have blood drawn and the red blood cells removed. The remaining serum will be made into an eye drop solution for the participant. * Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells. * Participants may have a retina test. They may also have a test that uses light to measure retina thickness. * Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes. * Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels. * Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light. * Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen.
This study will evaluate potential candidates for future clinical research studies related to diagnosed or undiagnosed genetic eye disorders or diseases. It will not test any new treatments, but it may arrange for standard treatments for existing eye disorders. The purpose of the study is to train eye doctors and medical researchers at the National Institutes of Health in appropriate methods and procedures for treating patients with genetic eye diseases, and to expand the pool of possible participants for future research studies and trials on eye health. Volunteers for this study may be adults and minor children who have been diagnosed with or are at risk for having a genetic eye disease. Candidates may not have any other medical conditions that would interfere with the researchers' ability to perform the examinations and procedures required for this study. Participants will give a complete medical and family history and undergo a series of tests and procedures as part of this research study. The procedures include a full eye examination and vision testing, electrooculography and an electroretinogram to examine the function of the retina, and flourescein angiography to provide information on the flow of blood in the participant's eyes. Participants will provide research material for further studies by giving a blood sample to be held for genetic testing and analysis, and adult participants will also undergo a skin biopsy to provide cell tissue for additional research material. At each clinic visit, participants will receive treatment for their genetic eye disease as needed, including medications or surgical procedures. Participants may remain a part of this study for up to three years.
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(R)) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE(R) is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. This study collects DNA samples from patients with inherited eye diseases to facilitate research to identify genetic factors responsible for these conditions. Nearly 500 genes that contribute to inherited eye diseases have been identified. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable. Physicians in collaborating institutions will recruit patients to participate in the study. Patients will provide a blood sample and undergo a standard eye examination. The blood sample and clinical information will then be sent to the NEI for testing, processing and storing in the biorepository. Patients are given the option to receive results back and/or to be re-contacted in the event of future clinical studies. Information supplied to the testing laboratories includes a unique identification number, the patient gender, and the patient date of birth. The stored samples are available to researchers along with information about the patient's disease, but without patient identifiers.
This study offers evaluation and treatment for patients with inherited (genetic) eye diseases. The protocol is not designed to test new treatments; rather, patients will receive current standard of care treatments. The purpose of the study is twofold: 1) to allow National Eye (NEI) Institute physicians to increase their knowledge of various genetic eye diseases, identify possible new avenues of research in this area, and maintain their clinical skills; and 2) to establish a pool of patients who may be eligible for new studies as they are developed. (Participants in this protocol will not be required to join a new study; the decision will be voluntary.) Children and adults with genetic eye diseases may be eligible for this study. Candidates will be screened with a medical and family history, thorough eye examination and blood test. The eye examination includes measurements of eye pressure and visual acuity (ability to see the vision chart) and dilation of the pupils with eye drops to examine the lens and retina (back part of the eye). Patients may also undergo additional diagnostic tests needed to determine eligibility for other NEI studies, including routine laboratory testing, imaging, questionnaires, a physical examination, and other standard and specialized tests and procedures as needed. In addition, patients will have special photographs taken of the eye to document the clarity or opacity of the eye lens. They will also undergo a procedure called electroretinography to assess the eye's response to bright lights. For this procedure, the eye is numbed with anesthetic drops and a contact lens is placed in the eye. The patient looks inside a large, hollow sphere and sees flashes of light, first in darkness and then in light. The contact lenses sense small electrical signals generated by the retina. Patients who need medical care will be given appropriate standard medical treatment. Those who are found eligible for a research study will be recommended for participation in that study and taken off this one. Participants will be followed at least 3 years. Follow-up visits are scheduled according to the standard of care for the individual patient's eye problem. Patients in this protocol will probably have 1 to 3 follow-up visits per year.
This screening protocol is designed to help recruit patients for National Eye Institute (NEI) studies on inherited eye diseases. Patients must meet specific requirements of a research study, and this protocol serves as a first step for admitting patients to an appropriate program. Candidates will undergo a medical history, physical examination, eye examination and blood test. The eye examination includes measurement of eye pressure and dilation of the pupils to fully examine the lens, vitreous and retina. Specialized tests will be done only if needed to determine eligibility for a specific study in NEI's Ophthalmic Genetics Clinic. These include routine laboratory tests, non-invasive imaging, questionnaires and other standard tests, as well as specialized tests and procedures where needed, including genetic testing. Photographs of the eye may be taken. Patients will be asked questions about family history, especially relating to eye disease or cataracts, and a family tree will be drawn. A blood sample will also be drawn. When the screening is completed, patients will be informed of their options to participate in a study. Patients who are ineligible for a current study will be informed of alternative treatments or options. No treatment is offered under this protocol.
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 is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing. This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genetic conditions involving the eye. Study Population: We plan to recruit 1,685 participants, to include both participants with an eye condition under study and unaffected family members. Ideally unaffected family members will be parents of an affected participant. Design: Most affected participants will be recruited from existing studies at the NEI. These include, but are not limited to, the Screening Protocol (08-EI-0102), the NEI Ocular Natural History protocol (16-EI-0134), the Genetics of Inherited Eye Disease protocol (15-EI-0128) and the Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) study (13-EI-0049). Unaffected family members will be invited to participate once an affected relative is determined eligible for participation. Offsite affected and unaffected participants will also be enrolled. If a participant is self-referred or referred to the study by an outside provider, screening will determine whether participation is offered. Offsite participants will be screened via phone or secure videoconference, and records will be requested for evaluation of affected participants.. Both affected and unaffected eligible participants will undergo genetic counseling and will provide a blood sample and/or saliva sample for exome or genome sequencing. Biological relationships may be confirmed prior to exome or genome sequencing. Sequence data will be analyzed for primary variants and secondary findings, unless participants choose to opt-out of secondary analysis and reporting. All sequence variants deemed clinically relevant will be validated in a CLIA-certified laboratory and the results will be returned to the participant in-person, secure video conference, or by telephone. Outcome Measures: This is an etiologic study that will generate molecular information about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular information for previously uncharacterized conditions involving the eye....
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.
The purpose of this study is to evaluate the efficacy safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene with early to moderate vision loss.
The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
The purpose of the study is to evaluate the safety and efficacy of a single intravitreal injection of virally-carried Multi-Characteristic Opsin (MCO-010).
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").
This is a prospective Multi-Center Observational Study to assess the reliability and validity of the Multi-Luminance Y-Mobility Test (MLYMT) and Multi-Luminance Shape Discrimination Study (MLSDT) Main Outcome Measures: (i) Performance scores in normal and severely visually impaired subjects with a clinical diagnosis of retinitis pigmentosa (RP) on MLYMT and MLSDT at multiple luminance levels and (ii) reliability and content validity of MLYMT and MLSDT.
The objective of this study is to evaluate the safety and tolerability of escalating doses of a gene therapy called GS030-DP (injected study treatment) administered via a single intravitreal injection and repeated light stimulation using a medical device called GS030-MD (stimulating glasses) in subjects with documented diagnosis of non-syndromic Retinitis Pigmentosa
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
The goal of this clinical trial is to assess the safety and efficacy of GS010, a gene therapy, in improving the retina functional \& structural outcomes in subjects with LHON due to the G11778A ND4 mitochondrial mutation when vision loss duration is present up to one year.
Background: - The purpose of this study is to find out whether color vision measured with the Cambridge Color Test is a good way to examine the severity of inherited retinal diseases (IRDs). IRDs are a major cause of vision loss worldwide, but very little is known about how the diseases affect color vision over time. This study will tell us if color vision may be used to track changes in inherited retinal diseases over time. Objectives: - To improve understanding of color vision as a way to measure changes in inherited retinal diseases. Eligibility: * People 5 years of age or older who have an IRD. * Healthy volunteers at least 5 years of age. Design: * Participants will make at least one visit to the National Eye Institute clinic. If they sign up for more tests, they may have up to three visits to the NEI clinic. * Participants will be asked questions about their medical and eye history. * Participants will be given an eye exam, including eye drops to dilate their pupils. They will take the Cambridge Color Test, which includes looking at a monitor and pressing a button, and arranging colored circles. Several other tests may be offered, but participants can decline to take them. * Treatment will not be provided as part of this study.
The purpose of this study is to understand if combining Low Vision Rehabilitation (LVR) with Emotional Regulation Therapy (ERT) can help people with inherited retinal diseases (IRDs) that experience emotional distress related to participants' vision loss. The study team hypothesize that treatment with LVR will produce measurable functional gains and that these effects will be enhanced by ERT-linked improvement among the subgroup of IRD patients with elevated vision-related anxiety.
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study RP103-MITO-001 (NCT02023866).
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in patients with inherited mitochondrial disease.
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.