8 Clinical Trials for Various Conditions
Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants associated with strabismus and nystagmus. Three types of subects will be enrolled: (1) Families with at least 3 members with strabismus, (2) individuals with infantile esotropia and their parents and siblings, and (3) individuals with infantile nystagmus and their parents. Whole exome and/or whole genome sequencing will be used to identify genetic variants shared by family members with strabismus and to identify genetic causes of nystagmus.
Involuntary oscillations of the eyes (nystagmus) impairs vision so that affected patients, who have neurological disorders such as Multiple Sclerosis (MS) , cannot read or watch TV. Two medicines have been reported to suppress nystagmus and improve vision in such patients: gabapentin and memantine. The investigators set out to test which of these two drug was more effective by carrying out a double-blind cross-over study. In this way, we could determine which drug worked best in each patient.
This study will examine the safety and effectiveness of a new surgical procedure to correct congenital nystagmus-a disorder of eye muscle-vision-brain coordination characterized by rapid to and fro eye movements (oscillation). Nystagmus usually begins in infancy or early childhood; its effect on vision varies greatly among patients. Current treatments, such as prism glasses, acupuncture, electronic nerve stimulation, contact lenses, various drug treatments, and others have had limited success. Patients with congenital nystagmus sometimes have other eye problems as well, such as cataracts, glaucoma, astigmatism or strabismus (cross-eyes). When these patients have eye muscle surgery to correct a problem, such as strabismus, their nystagmus also improves. Researchers think that simply cutting the muscles might produce this beneficial effect. This study will test this hypothesis-the horizontal muscles of the eye will be cut and then reattached in the same position. This procedure has been tried in one sheepdog with good results. This small preliminary trial will include five adult patients with congenital nystagmus who have no other treatment options. It will evaluate the safety of the surgery and its effect on eye oscillation and vision. If the procedure is found to be safe, additional patients will be studied. Patients will have a medical history, basic physical examination, complete eye examination, and electro-oculography (eye movement recordings) to determine if eligibility for the study. Those accepted into the study will undergo eye muscle surgery and followup eye examinations and electro-oculography at 1 week, 6 weeks, 6 months, 1 year, 2 years and 3 years after surgery.
This screening protocol is designed to help recruitment patients for National Eye Institute (NEI) studies on nystagmus and strabismus. 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 nystagmus or strabismus study. These include routine laboratory tests, non-invasive imaging, questionnaires, and other standard tests. If needed, a test called oculography may be done to record eye movements. There are two procedures for recording and documenting these movements. In the infrared system, the patient wears a pair of glasses or goggles and looks at a red light while the head is kept steady. In the search coil system, the eye is numbed with anesthetic eye drops and a soft contact lens is placed on the eye. Then the patient looks at a red light while the head is held still. Each oculography session lasts 20 to 30 minutes. Photographs of the eye may be taken. 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.
This study is a prospective, single crossover, double-masked, controlled clinical trial that will use topical brinzolamide (Azopt)ophthalmic medication to try to improve the nystagmus and visual consequences of nystagmus in patients with infantile nystagmus syndrome (INS). Subjects will undergo a clinical exam, questionnaire and eye movement recordings on day 1 and then receive either topical Azopt or placebo three times a day in both eyes for days 2,3 and 4 followed on the morning of day 5 by a repeat clinical exam, questionnaire and eye movement recordings. After at least one week, this protocol is repeated with the crossover regimen being taken by the subject. One week after all medications are discontinued, another clinical exam is done before study discharge. The hypothesis is that nystagmus and associated visual symptoms will be improved while on the Azopt compared to the placebo. There will be a total of 5 visits over a 1-2 month period.
Primary: The primary objective of this study under the original protocol was to provide neuromuscular specialists and neurologists access to amifampridine phosphate therapy for their patients with LEMS, CMS or downbeat nystagmus until the product became commercially available. Secondary: The secondary objective of this study under the original protocol was to provide additional long-term safety data on amifampridine phosphate in patients. Primary The primary objective of this study after its fifth amendment was to provide access to amifampridine phosphate therapy to pediatric patients with LEMS, and pediatric and adult patients with CMS until the product became commercially available for these indications or development of the product for the indication was terminated. Secondary: The secondary objective of this study after its fifth amendment was to assess the long-term safety of amifampridine phosphate in pediatric patients with LEMS, and pediatric and adult patients with CMS.
This study will evaluate and treat children or adults with inherited or developmental eye conditions. It will allow specialists in pediatric ophthalmology, genetic ophthalmology, and ocular motility at the National Eye Institute (NEI) to learn more about the course of various pediatric, genetic, developmental, and eye movement diseases thorough long-term observation and treatment. It will also serve as the first step in determining the eligibility of patients who may wish to enroll in other NEI clinical research studies or undergo standard eye treatments. Children with eye conditions, especially inherited or developmental conditions, and adults with eye disorders that began in childhood or that likely have a genetic or developmental component may be eligible for this study. Participants will undergo some or all of the following procedures: * Medical history, including family history. * Physical examination and possibly routine blood tests, x-rays tests, standard eye movement recordings, questionnaires, and specialized procedures when needed. * Complete eye examination, including vision test, visual perception, eye pressure (if possible), dilation of the pupils to examine the back of the eye (lens, vitreous, and retina). * Photographs of the eyes. * Oculography (eye movement recordings) in patients for whom testing will aid in diagnosis. This test is done either with goggles placed over the eyes or with a contact lens placed on each eye. When the goggles or lenses are in place, the subject looks at a series of red targets on a computer screen. * Electroretinography (ERG) in patients with suspected retinal degeneration. This is a test of the electrical function of the eyes. Before the test, patients sit in a dark room for 30 minutes with their eyes patched. A small electrode (silver disk) is taped to their forehead. The eye patches are then removed, the eyes are numbed with drops, and contact lenses are placed in the eyes. The contact lenses sense small electrical signals generated by the retina when lights flash. During the ERG recording, the patient looks inside a large empty bowl. A light flashes, first in the dark and then with a light turned on inside the bowl. The test takes 1 hour or less. Participants are followed up to 6 times a year for 3 years, depending on the diagnosis and treatment.
This study offers evaluation and treatment for patients with pediatric eye diseases, particularly amblyopia and strabismus. 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 Institute physicians to increase their knowledge of inflammatory eye conditions and identify possible new avenues of research in this area; 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.) Patients age 6 months and older with pediatric eye diseases, including amblyopia, strabismus, cataracts, glaucoma, and developmental abnormalities may be eligible for this study. Candidates will be screened with a medical history, eye examination, and diagnostic procedures that may include routine laboratory testing, X-rays, questionnaires, physical examination, and other standard or specialized tests or procedures as needed. The eye examination includes measurements of eye pressure and visual acuity (ability to see the vision chart), examination of the pupils and eye movements, and dilation of the pupils to examine the lens and retina. In addition, patients will undergo a procedure to record eye movements called oculography, in which special detectors measure infrared light reflected off the patient's eyes while he or she watches lights on a computer screen. Participants will be followed for at least 3 years. Visits will be scheduled from 1 to 6 times a year, according to the standard of care for the individual patient's eye problem. Vision will be checked at each visit, and some of the screening tests described above may be repeated to follow the progress of disease and evaluate the response to treatment.