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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

Brief 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).

Detailed Summary: 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.
Sponsor: Alexion Pharmaceuticals

Current Primary Outcome: Clinical History Summary [ Time Frame: Expected average of 15 years ]

Characterize patient demographic data and clinical course of disease using descriptive statistics.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Alexion Pharmaceuticals

Dates:
Date Received: February 1, 2012
Date Started: June 2011
Date Completion:
Last Updated: July 19, 2016
Last Verified: April 2013