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

Completed

• Conditions: Cholesterol Ester Storage Disease(CESD); Lysosomal Acid Lipase Deficiency

• Registration Number: NCT01528917
• Lead Sponsor: Alexion Pharmaceuticals, Inc.

Brief Summary

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).

Detailed Description

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 Timeline

• Study Start: 2011-06
• Study First Submitted: 2012-02-01
• Study First Submitted QC: 2012-02-07
• Study First Posted: 2012-02-08
• Primary Completion: 2013-01
• Status Verified: 2013-04
• Study Completion: 2013-05
• Last Update Submitted: 2016-07-19
• Last Update Posted: 2016-07-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 49

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Clinical History Summary	Expected average of 15 years	Characterize patient demographic data and clinical course of disease using descriptive statistics.

Trial Locations

Locations (16)

Morgan Stanley Children's Hospital of New York-Presbyterian; 🇺🇸 New York, New York, United States

Stanford University; 🇺🇸 Stanford, California, United States

Children's Hospital of Pittsburgh; 🇺🇸 Pittsburgh, Pennsylvania, United States

Hôpital Necker-Enfants Malades; 🇫🇷 Paris, France

Hospital for Sick Kids; 🇨🇦 Toronto, Canada

Regina Margherita Hospital; 🇮🇹 Turin, Italy

Children's Memorial Health Institute; 🇵🇱 Warsaw, Poland

Hopitaux Universitares De Geneve; 🇨🇭 Geneve, Switzerland

Birmingham Children's Hospital; 🇬🇧 Birmingham, United Kingdom

Salford Royal; 🇬🇧 Salford, United Kingdom

Addenbrooke's Hospital; 🇬🇧 Cambridge, United Kingdom

Children's Memorial Hospital; 🇺🇸 Chicago, Illinois, United States

Seattle Children's; 🇺🇸 Seattle, Washington, United States

Gaslini Institute; 🇮🇹 Genoa, Italy

University of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States

1st Faculty of Medicine Charles University; 🇨🇿 Prague, Czech Republic