A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

Alexion Pharmaceuticals, Inc.40 enrolled

Overview

This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.

The objective of this study is to characterize key aspects of the clinical course of LAL deficiency/Wolman phenotype in patients including, but not limited to, survival and growth parameters, to serve as a historical control to inform the evaluation and care of affected patients and to provide a reference for efficacy studies of enzyme replacement or other novel therapies.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Lysosomal Acid Lipase Deficiency Wolman Disease

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later provided they have required data points in their medical records. Exclusion Criteria: * Patients will be excluded from the study if the required data points for inclusion are not available. * Living LAL deficiency/Wolman phenotype patients will be excluded

Locations (14)

Cedars-Siani Medical Center

Los Angeles, California, United States

Stanford University

Palo Alto, California, United States

University of Minnesota

Minneapolis, Minnesota, United States

Outcomes

Primary Outcomes

Time to Death

The time to death will be analyzed using Kaplan-Meier curves. Estimates (with exact 95% confidence interval \[CI\]) of the median and the lower and upper quartiles of time to death will be derived.

Time frame: Up to two years.

Data from ClinicalTrials.gov

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