7 Clinical Trials for Various Conditions
This study will evaluate the safety and tolerability of ATSN-201 in male subjects ≥ 6 years of age with RS1-associated X-linked retinoschisis (XLRS).
Background: X-linked retinoschisis (XLRS) is a genetic condition. It usually presents in boys in childhood with vision loss. Genetic conditions affect the people who have it and also their family members. Researchers want to learn if mothers and fathers react differently when a son gets XLRS. They also want to learn how personality impacts the way people react. This will help researchers find better ways to support families living with XLRS. Objective: To learn more about the experiences of mothers of sons with XLRS compared to fathers of sons with XLRS. Also to study personality differences between mothers and fathers. Eligibility: Parents of a biological son of any age with XLRS who is enrolled in protocol 03-EI-0033 Design: Participants will be asked questions in person or by phone. This will last 30 90 minutes. They will be asked about their experience with XLRS and how it has impacted their family. The interview will be recorded. Participants will complete a survey about personality traits. It will be anonymous. It can be completed by mail, email, or fax. It will take about 15 minutes. Participants data may be shared with others, including those not at NIH, if they agree. Their data may be stored. Sponsoring Institution: National Eye Institute
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector expressing retinoschisin (rAAV2tYF-CB-hRS1) in patients with X-linked retinoschisis. Up to 27 participants will be enrolled and 3 dose levels will be evaluated in a dose escalation format.
The purpose of this study is to evaluate subjects with X-linked retinoschisis in a clinical setting to collect data on disease progression.
Background: - X-linked juvenile retinoschisis (XLRS) is caused by changes in the RS1 gene. These changes cause abnormal function of the eye protein retinoschisin. Without normal retinoschisin, the layers of the retina split and vision is lost. Researchers want to try to introduce a healthy RS1 gene into eye cells, to see if this helps retinal cells make healthy retinoschisin. They will put the gene in a virus. The gene and virus package is known as a gene transfer vector (AAV-RS1 vector). Objectives: - To see if the AAV-RS1 vector is safe to use in patients with X-linked retinoschisis. Eligibility: - Adults 18 and older with a mutation of the RS1 gene, 20/63 vision or worse in one eye, and XLRS. Design: * Participants will be screened with genetic tests to confirm XLRS. They will have a medical history and physical and eye exams. * At visits 1-2, participants will have some or all of the following: * Medical history * Physical exam * Blood and urine tests * Tuberculosis skin test * Eye exam * Vision tests (for one test an intravenous line will be placed in the arm. A dye will be injected that will travel to the blood vessels in the eye). * At visit 3, the AAV-RS1 vector will be injected with a needle in the study eye. Participants pupils will be dilated. They will get numbing eye drops. * Visits 4-13 will occur in the 18 months after gene transfer. Many of the above tests will be repeated. Participants will discuss any side effects. * Visits 14-17 will occur yearly between years 2 and 5. * After year 5, participants will be contacted yearly by phone for up to 15 years.
This study will explore the causes and eye problems of X-linked juvenile retinoschisis (XLRS), an inherited disease that causes vision loss primarily in young males. The vision loss, which worsens over time, is a result of schisis, or splitting, of the layers of the retina (tissue that lines the back of the eye). A better understanding of why and how XLRS develops might lead to improved treatments. Patients 9 months of age and older with XLRS and females who are suspected carriers of the gene responsible for the disease (such as the mother of the patient) may be eligible for this study. Other family members of patients also may be enrolled. Patients will undergo the following tests and procedures: * Personal and family medical history to review past and current medical conditions and treatments, particularly regarding eye disease, and to construct a family tree. * Eye examination to assess visual acuity (eye chart test) and examine pupils, lens, retina, and eye movements. The pupils will be dilated with drops for this examination. * Photography of the retina to help evaluate the status of the retina. * Specialized eye tests to evaluate color vision, field of vision, and ability to see in the dark. * Electroretinogram (ERG) to examine what happens to the eyes after a flash of bright light. For this test, the patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small silver disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes. The patient looks inside a large empty bowl and then a light flashes, first in the dark and then with a light turned on inside the bowl. The contact lenses sense small electrical signals generated by the retina when the light flashes. * Blood test to examine DNA for genetic study of XLRS. Family members will provide a blood sample for genetic study.
Background: -X-linked retinoschisis (XLRS) is an inherited eye condition. Researchers want to learn more about how people with XLRS choose to take part in research studies. They hope to find ways to help other people make decisions about joining early phase trials Objective: -To learn more about how people think and feel about taking part in early phase research. Eligibility: -Adults age 18 or older with diagnosed XLRS. They must be eligible to be screened for a Phase I/II ocular gene transfer clinical trial. Design: * Participants will be screened for the XLRS gene transfer study. They will be interviewed: * Eligible participants who join the study - before the gene transfer procedure, then 3 months and 12 months after it. * Eligible participants who do not join the study - after their screening visit and 3 months and 12 months later. \<TAB\>- Participants who are screened but ineligible - after their screening visit. \<TAB\>- Participants who choose not to be screened - at the time they make the decision and 1 year later. * Interviews will ask for the participants thoughts about the clinical trial and why they chose to take part or not. The interviews will be recorded. * On the day of interview 1, participants will fill out a survey about their mood and personality. * On the days of interviews 2 and 3, participants will fill out a survey about their mood. * Interviews may be done in person or by phone. Surveys can be done online or through the mail. Or they can be done in person at the NIH Clinical Center.