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

Alexion Pharmaceuticals, Inc.49 enrolled

Overview

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).

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 Type

OBSERVATIONAL

Enrollment

Conditions

Cholesterol Ester Storage Disease(CESD)Lysosomal Acid Lipase Deficiency

Eligibility

Sex: ALLMin age: 5 Years

Medical Language ↔ Plain English

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

Locations (16)

Stanford University

Stanford, California, United States

Children's Memorial Hospital

Chicago, Illinois, United States

University of Minnesota

Outcomes

Primary Outcomes

Clinical History Summary

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

Time frame: Expected average of 15 years

Data from ClinicalTrials.gov

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