NCT01528917

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

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 49 (actual)
• Sponsor: Alexion Pharmaceuticals, Inc. · Industry
• Sex: All
• Age: 5 Years
• Healthy volunteers: Not accepted

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 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.

Conditions

• Cholesterol Ester Storage Disease(CESD)
• Lysosomal Acid Lipase Deficiency

Timeline

• Start date: 2011-06-01
• Primary completion: 2013-01-01
• Completion: 2013-05-01
• First posted: 2012-02-08
• Last updated: 2016-07-20

Locations

16 sites across 8 countries: United States, Canada, Czechia, France, Italy, Poland, Switzerland, United Kingdom