View clinical trials related to Genetic Disease.
Filter by:The aim of the research is to investigate the safety and efficacy of EPI-743 treatment in patients with Cbl-C defect and related visual and neurological impairment. Primary Endpoints will be the improvement in visual function as assessed by visual acuity and eye-hand coordination and manual dexterity. Secondary Endpoints will be the improvement in neurologic function, evaluated by a battery of age-appropriated psychophysical tests, and/or in objective electrophysiological tests such as Visual Evoked potentials (VEP) and Electroretinogram (ERG) and/or the change in serum markers of redox state.
Background: - Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by changes in genetic material. Researchers are interested in studying individuals with these congenital malformations to better understand the causes and the effects of certain congenital malformations. Objectives: - To understand more about what causes congenital malformations that arise in early human development. - To learn if genetic causes can be found to explain why a person has a congenital malformation. Eligibility: - Individuals who have been diagnosed with a congenital malformation. Design: - Participants will be seen at the National Institutes of Health for a series of visits over 3 to 4 days. Participants will be asked to provide copies of past medical records and test results for review, and will be asked questions about pregnancy/prenatal history, birth, newborn, medical, developmental, and family history. - Parents or siblings of participants may also be asked to provide information for research purposes. - Participants may have additional medical evaluations as part of this study, including any of the following tests: - Physical examinations - Other consultations as clinically indicated - Blood samples for genetic testing - Tissue biopsy for genetic testing - Photographs of affected areas, such as front and side views of the face and other body parts that may be involved in a congenital malformation, like the hands and feet. - Other tests as indicated by a specific malformation, such as organ ultrasounds. - No additional invasive testing, testing requiring sedation, or testing involving radiation is planned for this protocol. These tests, if performed, would involve a separate consent....
The purposes of this study are to identify the genes responsible for several inherited disorders commonly seen in the Amish and Mennonite populations and learn more about the natural history (medical problems that develop over time) of these disorders. In addition, researchers will establish a computer database containing Amish genealogies, derived largely from the community s extensive records of births, marriages, deaths, etc., that will help construct pedigrees (family trees) for genetic study. The Amish and Mennonite peoples have a high rate of intermarriage within their individual communities, with a resulting high incidence of inherited disorders. Many of these disorders, such as cartilage-hair hypoplasia, Ellis-van Creveld syndrome, and others, are rarely seen outside these communities. New research using state-of-the-art methodologies in genetics will add to current knowledge about the causes and symptoms of these disorders that will eventually aid in their diagnosis and medical management. Patients with inherited disorders that occur frequently in the Amish and Mennonite populations and their family members may be eligible for this study. Individuals from both within and outside these communities may enroll. Participants will be evaluated with a review of their medical records and their personal and family medical history and a brief physical examination. A small tissue sample will be collected for genetic studies. This will be either a blood sample (3 teaspoons from adults and 1 to 3 teaspoons from children, depending on their size) or a mouth swab (cells removed from inside the cheek by gentle brushing). Some participants may undergo additional procedures, such as diagnostic X-rays, brain scans, echocardiogram (heart ultrasound) or other studies. If genetic testing shows a gene change (mutation), the participant will be notified to that effect in writing and offered counseling in their home regarding the test results and their implications.