View clinical trials related to X-Linked.
Filter by:DDX3X related disorder is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile and, second, to study the epigenetic signature in a cohort of individuals with DDX3X pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France. Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab. Between 2018 and 2020, the investigators have already recruited data from individuals with DDX3X pathogenic variants from several European and Asian genetic centres
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
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 people. 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.
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.