Genetic Studies of Lysosomal Storage Disorders
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|ClinicalTrials.gov Identifier: NCT00001215|
Recruitment Status : Enrolling by invitation
First Posted : November 4, 1999
Last Update Posted : December 11, 2020
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 or disease|
|Lysosomal Storage Disease Gaucher Disease Parkinson Disease|
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 glucocerebrosidase, which breaks down the lipid glucocerebroside. The disease is characterized by extremely variable phenotypes, with some patients presenting in childhood with virtually all the complications of Gaucher disease, while others remain 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 its progression:
Type 1 -Non-neuronopathic form
Type 2 -Acute neuronopathic form
Type 3 -Chronic neuronopathic form
Some patients, however, defy classification into these three categories, and it may be more
accurate to regard Gaucher disease as a continuum of phenotypes..In addition, patients and
carriers for Gaucher disease are at increased risk for developing Parkinson disease and related disorders.
Our goal in this study is to identify genetic, biochemical, and clinical parameters that are associated with disease severity in individuals with lysosomal storage disorders, identify mild phenotypic manifestations in their relatives, and explore the natural history and extent of associated clinical manifestations. We also want to investigate non-motor manifestations in subjects at higher risk for developing parkinsonism that could contribute to earlier diagnosis. 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 specific 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 either in the inpatient wards or the outpatient clinic, and will be re-evaluated at periodic intervals longitudinally.
|Study Type :||Observational|
|Actual Enrollment :||550 participants|
|Official Title:||Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders|
|Actual Study Start Date :||May 16, 1986|
a family member of a documented proband
the participant on initial screening must be found to have or be a carrier of a documented lysosomal storage disorder
- Clinical Phenotypes [ Time Frame: ongoing ]The purpose of this study is to clearly describe the clinical phenotypes of individuals with lysosomal storage diseases in order to better understand the pathophysiology of these disorders and to develop new therapies.
- development o Parkinsonism [ Time Frame: ongoing ]We aim to identify factors that may be predictive of the development of Parkinsonism in an at-risk population
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): NCT00001215
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Ellen Sidransky, M.D.||National Human Genome Research Institute (NHGRI)|