Nervous System Degeneration in Glycosphingolipid Storage Disorders
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|ClinicalTrials.gov Identifier: NCT00029965|
Recruitment Status : Recruiting
First Posted : January 28, 2002
Last Update Posted : April 24, 2019
This study will evaluate children with glycosphingolipid (GSL) storage disorders to investigate brain changes that cause nervous system degeneration. No experimental treatments are offered in this study; participants will receive standard medical care for their disease. The information from this study may help researchers develop new therapies for these disorders and monitor the effects of treatment.
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.
|Condition or disease|
|Neurological Regression Myoclonus Cherry Red Spot Brain Atrophy|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|Official Title:||Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders|
|Actual Study Start Date :||January 25, 2002|
Lysosomal Storage Diseases
Lysosomal Storage Diseases
- Natural history of Lysosomal Storage Diseases [ Time Frame: Assessed one to every two years ]Exploring the natural history of Lysosomal Storage Diseases
- Exploring the natural history of Glycoprotein Disorders [ Time Frame: Assessed one to every two years ]Exploring the natural history of Glycoprotein Disorders
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00029965
|Contact: Cynthia J Tifft, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Cynthia J Tifft, M.D.||National Human Genome Research Institute (NHGRI)|