Clinical Trial: Genetic Studies of Lysosomal Storage Disorders

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational

Official Title: Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders

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.

Detailed Summary:

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

<TAB>

Type 2 -Acute neuronopathic form

<TAB>

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

car
Sponsor: National Human Genome Research Institute (NHGRI)

Current Primary Outcome:

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Institutes of Health Clinical Center (CC)

Dates:
Date Received: November 3, 1999
Date Started: May 16, 1986
Date Completion:
Last Updated: April 20, 2017
Last Verified: March 1, 2017