Protocol Number: 02-DK-0107
Patients of any age with Tay-Sachs disease, Sandhoff disease, GM1 gangliosidosis, or type 2 Gaucher disease may be eligible for this study. Participants will be admitted to the NIH Clinical Center for 4 to 5 days every 6 months for a clinical evaluation involving the following tests and procedures: - Medical history - Physical, neurologic, and eye examinations - Developmental evaluations by a physical therapist, nutritionist and psychologist - Blood tests to check nutritional status, liver and kidney function, and, in patients treated for seizures, level of anti-seizure drugs. Some blood will also be used for research purposes. - Urinalysis to check urine sugar levels and kidney function - Skin biopsy to obtain cells to grow in culture. The biopsy area is numbed with an anesthetic cream and a 1/8-inch piece of skin is removed with a circular punch and scissors. - Genetic analysis of DNA to screen for mutations responsible for the patient's GSL storage disorder - Magnetic resonance imaging (MRI) brain scans. Children with type 2 Gaucher disease, Sandhoff disease and GM1 gangliosidosis will also have liver and spleen scans. Brain scans will be done every 6 months the first year. After that, they may be done less often, depending on the results. For the MRI, the child lies still in a narrow cylinder (the scanner). A magnetic field and radio waves are used to produce pictures of the organs under study. (Children will be sedated for MRI. Children who cannot be sedated will not have this test.) - Electroencephalogram (EEG) to measure electrical activity of the brain and detect possible seizures. For this test, electrodes (small metal discs attached to wires) are attached to the child's head with a paste and the brain waves (electrical activity) are recorded while the child rests quietly. - Brainstem auditory evoked response (BAER) to measure hearing. Electrodes are attached to the child's head (similar to the EEG procedure) and the brain waves are recorded when a sound stimulation is given. - Lumbar puncture (spinal tap) to study proteins in the cerebrospinal fluid, which bathes the brain and spinal cord. A needle is inserted in the space between the bones (vertebrae) in the lower back. About 2 tablespoons of fluid is collected through the needle. This test is done under anesthetic at the same time the MRI is done. If the child cannot be sedated, a local anesthetic will be used.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/16/2008
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