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

Alexion Pharmaceuticals

Status: Completed

Conditions: Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease(CESD)

Study type: Observational

Funder types: Industry

Identifiers

NCT01528917

LAL-2-NH01

Details and patient eligibility

About

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).

Full 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.

Enrollment: 49 patients

Sex: All

Ages: 5+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD) who are 5 years of age or older and have required data points in their medical record

Exclusion criteria

• Required data points for inclusion are not available