Effects of Enzyme Replacement in Gaucher's Disease
Gaucher's Disease
About this trial
This is an observational trial for Gaucher's Disease focused on measuring Enzyme Replacement, Type 3 Gaucher's Disease, Lysosomal Storage, Supranuclear Gaze Palsy, Seizures, Mental Retardation, Gaucher Disease
Eligibility Criteria
INCLUSION CRITERIA: All patients with neuropathic Gaucher's disease who have a partial or complete horizontal supranuclear gaze palsy or a genotype associated with neurological involvement. All candidates must be serologically nonreactive for hepatitis B and human immunodeficiency (AIDS) virus. HIV positive patients will be excluded because of the effects of the latter illness on cognitive performance. Individuals with neoplastic disease will be excluded. The general health and well being of each candidate must be sufficient to allow for a modest amount of blood drawing, collection of appropriate urine and spinal fluid specimens and performance of necessary roentgenographic and magnetic resonance (MR) imaging studies. In addition, each candidate must be able to return to the National Institutes of Health (NIH) on a regular basis dictated by disease severity for monitoring of laboratory parameters. EXCLUSION CRITERIA: Patient who participates in a clinical study of an investigational therapeutic agent for Gaucher Disease. Patient and/or the patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the study. Patient is unable to comply with the protocol, e.g., uncooperative with protocol schedule, refusal to agree to all of the study procedures.
Sites / Locations
- National Institutes of Health Clinical Center, 9000 Rockville Pike