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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
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:

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

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders
Actual Study Start Date : January 25, 2002


Group/Cohort
Glycoprotein Disorders
Glycoprotein Disorders
Lysosomal Storage Diseases
Lysosomal Storage Diseases



Primary Outcome Measures :
  1. Natural history of Lysosomal Storage Diseases [ Time Frame: Assessed one to every two years ]
    Exploring the natural history of Lysosomal Storage Diseases

  2. Exploring the natural history of Glycoprotein Disorders [ Time Frame: Assessed one to every two years ]
    Exploring the natural history of Glycoprotein Disorders



Information from the National Library of Medicine

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Ages Eligible for Study:   up to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with Lysosomal Storage Diseases and Glycoprotein Disorders.@@@@@@
Criteria
  • 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

Information from the National Library of Medicine

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


Contacts
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Contact: Cynthia J Tifft, M.D. (301) 451-8485 cynthiat@mail.nih.gov

Locations
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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    prpl@cc.nih.gov   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
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Principal Investigator: Cynthia J Tifft, M.D. National Human Genome Research Institute (NHGRI)

Additional Information:
Publications:
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Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT00029965     History of Changes
Other Study ID Numbers: 020107
02-HG-0107
First Posted: January 28, 2002    Key Record Dates
Last Update Posted: April 24, 2019
Last Verified: April 12, 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Sialidosis
Lysosomal Storage Disease
Glycoprotein Disorders
GM1 Gangliosidosis
GM2 Gangliosidosis
Lysosomal Storage Disorder
Tay-Sachs
Sandhoff
Gaucher

Additional relevant MeSH terms:
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Atrophy
Myoclonus
Pathological Conditions, Anatomical
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
polysaccharide-K
Adjuvants, Immunologic
Immunologic Factors
Physiological Effects of Drugs
Antibiotics, Antineoplastic
Antineoplastic Agents
Antiviral Agents
Anti-Infective Agents
Interferon Inducers
Radiation-Protective Agents
Protective Agents