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An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

Lysosomal Acid Lipase Deficiency Clinical Trial

Official title:
An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

Clinical Trial Summary

This is a Natural History study to characterize key aspects of the clinical course of late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD).

Clinical Trial Description

The objective of this study is to characterize key aspects of the clinical presentation, disease phenotype and progression of patients with late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD) including, but not limited to, age of presentation, onset of hepatomegaly, progression over time of liver function, and stability of lipid abnormalities. ;

Study Design

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT01528917
Study type Observational
Source Alexion Pharmaceuticals
Contact
Status Completed
Phase N/A
Start date June 2011
Completion date May 2013
View Details
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