Protocol Details

Investigation of Neurodegeneration in the Glycosphingolipid Storage Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	02-HG-0107
Sponsoring Institute	National Human Genome Research Institute (NHGRI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Tay-Sachs; Sandhoff; Gaucher; GM1 Gangliosidosis; Lysosomal Storage
Recruitment Keyword(s)	Lysosomal Storage Disorder; Tay-Sachs; Sandhoff; Gaucher
Condition(s)	Gangliosidoses; Gaucher Disease
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Human Genome Research Institute

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.

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Eligibility

INCLUSION CRITERIA:

- Individuals greater than 6 months of age with GM1 or GM2 gangliosidosis documented by enzyme deficiency and/or mutation analysis in a CLIA-approved laboratory

EXCLUSION CRITERIA:

- Individuals who in the opinion of the principal investigator are too medically fragile to travel safely to the NIH for evaluation

- Individuals unable to comply with the protocol

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Citations:

Wada R, Tifft CJ, Proia RL. Microglial activation precedes acute Neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci U S A. 2000 Sep 26;97(20):10954-9.

Cantor RM, Roy C, Lim JS, Kaback MM. Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations. Am J Hum Genet. 1987 Jul;41(1):16-26.

Myerowitz R, Hogikyan ND. Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science. 1986 Jun 27;232(4758):1646-8.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Cynthia J. Tifft, M.D. National Human Genome Research Institute (NHGRI) National Institutes of Health BG 10-CRC RM 3-2551 MSC 1205 10 CENTER DR BETHESDA MD 20892-1205 (301) 451-8485 cynthiat@mail.nih.gov	Cynthia J. Tifft, M.D. National Human Genome Research Institute (NHGRI) National Institutes of Health BG 10-CRC RM 3-2551 MSC 1205 10 CENTER DR BETHESDA MD 20892-1205 (301) 451-8485 cynthiat@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00029965

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