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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

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

Detailed Summary: 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.
Sponsor: Alexion Pharmaceuticals

Current Primary Outcome: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Alexion Pharmaceuticals

Dates:
Date Received: April 13, 2011
Date Started: November 2010
Date Completion:
Last Updated: June 23, 2016
Last Verified: June 2016