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Genetic Studies of Lysosomal Storage Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00001215
Recruitment Status : Enrolling by invitation
First Posted : November 4, 1999
Last Update Posted : November 27, 2020
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:

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

Detailed Description:

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

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Type 2 -Acute neuronopathic form

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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.

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Study Type : Observational
Actual Enrollment : 548 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders
Actual Study Start Date : May 16, 1986


Group/Cohort
Control
healthy volunteers
Family Member
a family member of a documented proband
Patient
the participant on initial screening must be found to have or be a carrier of a documented lysosomal storage disorder



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patient (or family members of patient) must be found to have or be a carrier of a documented lysosomal storage disorder.@@@
Criteria
  • INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

There are no exclusion criteria.


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): NCT00001215


Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
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Principal Investigator: Ellen Sidransky, 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: NCT00001215    
Other Study ID Numbers: 860096
86-HG-0096
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: November 27, 2020
Last Verified: September 4, 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Variants
Chemical Phenotype
Proteins
Phenotype
Glucocerebrosidase
Additional relevant MeSH terms:
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Parkinson Disease
Gaucher Disease
Lysosomal Storage Diseases
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolic Diseases
Lipid Metabolism Disorders