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Discover 23,284 clinical trials near Maryland. Find research studies in your area.
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NCT00023036
This study will try to identify and understand the genetic factors that lead to an inner ear malformation called "enlarged vestibular aqueducts", that can be associated with hearing loss. Patients with sensorineural hearing loss with or without inner ear malformations and their parents and siblings may be eligible for this study. Participants and their immediate family members, may undergo some or all of the following tests and procedures: * Medical and family history, including questions about hearing, balance and other ear-related issues, and review of medical records. * Routine physical examination. * Blood draw or buccal swab (brushing inside the cheek to collect cells) - Tissue is collected for DNA analysis to look for changes in genes that may be related to hearing loss. * Hearing tests - The subject listens for tones emitted through a small earphone. * Balance test (VEMP) to see if balance functions of the inner ear are associated with the hearing loss Electrodes will be placed behind your ear and at the base of your neck. From a reclining position, you will be asked to raise your head while clicking sounds are played into your ears. - Ultrasound tests - An inner ear malformation called EVA (enlargement of the vestibular aqueduct) indicates that a genetic disorder called Pendred syndrome may be the cause. Because thyroid abnormalities are also associated with Pendred syndrome, an ultrasound examination of the thyroid gland may be done. * Computed tomography (CT) and magnetic resonance imaging (MRI) scans - These tests show the structure of the inner ear. For CT, the subject lies still for a short time while X-ray images are obtained. For MRI, the patient lies on a stretcher that is moved into a cylindrical machine with a strong magnetic field. The magnetic field and radio waves produce images of the inner ear. The radio waves cause loud thumping noises that can be muffled by the use of earplugs.
NCT03300830
Background: A person s genome is the collection of all their genes. A gene instructs individual cells to make proteins. Proteins are involved in all of our body s chemical processes. Genome sequencing allows researchers to find variations in genes. Some of these are normal and are not known to cause disease. Some variants are known to cause or affect diseases like cancer. Researchers want to study genetic variants in people with cancer who also have an immunologic disease like HIV. Objective: To study the biology of cancer in order to improve ways to prevent, detect, and treat it. Eligibility: Adults at least 18 years old with certain cancers and/or immunodeficiencies Design: Participants will be screened with medical history, physical exam, and lab tests. Participants will give samples of one or more tissue type. They may give blood or urine samples. Researchers may get samples of tissue when participants have surgery or when the participants are on other protocols in the NCI. Participants may have a procedure to have tissue samples removed. Researchers may collect data from participant medical records. Researchers will compare the genes in a participant s cancer tissue to their normal tissue. They may use the tissue cells to grow new cells in a lab. Participants may be contacted about the results. The samples will be stored for future research. No personal data will be kept with them. ...