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

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

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Key information

Conditions

Lysosomal Acid Lipase Deficiency Cholesterol Ester Storage Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Infant, Newborn, Diseases Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Wolman Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

The Hospital for Sick Children, Toronto, Ontario, Canada

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Time to Death

Time frame: Up to two years.

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.

Sponsors and collaborators

Lead sponsor

Alexion Pharmaceuticals, Inc.

Industry

Registry information

Important dates

Study start: 2010
Primary completion: 2013
Study completion: 2013
First posted: May 23, 2011
Registry last updated: Jun 27, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed