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Sponsors and Collaborators: |
National Human Genome Research Institute (NHGRI) National Institute of Mental Health (NIMH) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00001215 |
The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.
There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient or inpatient basis in order to better characterize the clinical, genetic, and pathophysiological features of these disorders. Participants will be re-evaluated on an annual basis.
Condition |
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Gaucher's Disease Lysosomal Storage Disease |
Study Type: | Observational |
Official Title: | Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders |
Estimated Enrollment: | 500 |
Study Start Date: | May 1986 |
There is a vast spectrum of clinical manifestations encountered in individuals with lysosomal storage diseases. Lysosomes are organelles that are involved in the degradation of intracellular proteins, recycled products and organelle in the cell. Lysosomal storage disorders occur when an enzyme necessary for breaking down these molecules is deficient, and, as a result, the substrate accumulates within the lysosomes of cells and may affect different organ systems. This is a longitudinal natural history study of patients with Gaucher disease and other storage disorders. Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocrebrosidase, which breaks down the lipid glucocerebroside. The disease is characterized by the continuum of phenotypes. The severity is extremely variable, with some patients presenting in childhood with virtually all the complications of Gaucher disease, while others remaining asymptomatic into their eighth decade. Often patients with Gaucher disease develop hepatosplenomegaly, anemia, thrombocytopenia and bony problems. Gaucher disease has traditionally been divided into three clinical subtypes, delineated by the absence or presence of neurologic involvement and it progression:
Type 1 - Non-neuronopathic form
Type 2 - Acute neuronopathic form
Type 3 - Chronic neuronopathic form
Some patients, how ever defy classification into these three categories
Our specific aim in this study is to identify genetic, biochemical and clinical parameters that are associated with disease severity in individuals with lysosomal storage disorders, and to explore the natural history and extent of associated clinical manifestations. Participants will be evaluated at the NIH to better characterize the clinical, genetic and pathophysiological features of these disorders. In order to better understand the entire effect of the enzyme deficiencies and the function of the particular proteins involved, emphasis will be placed on individuals with atypical presentations. In particular, we will focus on subjects with Gaucher disease and parkinsonism, to better understand the association between the two disorders. Following an initial comprehensive workup, participants will be studied as either in the inpatient unit or the outpatient clinic, and will be re-evaluated at approximately one-year intervals.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Participants must be found to have or be a carrier of a documented lysosomal storage disorder or be a family member of a documented proband.
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 860096, 86-HG-0096 |
Study First Received: | November 3, 1999 |
Last Updated: | July 18, 2008 |
ClinicalTrials.gov Identifier: | NCT00001215 |
Health Authority: | United States: Federal Government |
Lysosomal Storage Disorders Variants Chemical Phenotype Proteins |
Genes Phenotype Mutations Parkinsonism |
Lipid Metabolism, Inborn Errors Sphingolipidoses Metabolic Diseases Lysosomal Storage Diseases Sphingolipidosis Central Nervous System Diseases Brain Diseases Lymphatic Diseases Metabolism, Inborn Errors |
Genetic Diseases, Inborn Parkinsonian Disorders Brain Diseases, Metabolic, Inborn Lipidoses Metabolic disorder Gaucher Disease Lipid Metabolism Disorders Brain Diseases, Metabolic |
Reticuloendotheliosis Lysosomal Storage Diseases, Nervous System Nervous System Diseases |