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



Status:Completed
Conditions:Endocrine
Therapuetic Areas:Endocrinology
Healthy:No
Age Range:5 - Any
Updated:7/21/2016
Start Date:June 2011
End Date:May 2013

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An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

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.

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
We found this trial at
7
sites
Minneapolis, Minnesota 55455
(612) 625-5000
Univ of Minnesota With a flagship campus in the heart of the Twin Cities, and...
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Chicago, Illinois 60614
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New York, NY
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3414 Fifth Avenue
Pittsburgh, Pennsylvania 15213
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Seattle, Washington 98115
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Seattle, WA
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450 Serra Mall
Stanford, California 94305
(650) 723-2300
Stanford University Stanford University, located between San Francisco and San Jose in the heart of...
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555 University Avenue
Toronto, M5G 1X8
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Toronto,
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