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NCT01528917 Clinical Trial

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

Lysosomal Acid Lipase Deficiency Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT01528917
Other study ID # LAL-2-NH01
Secondary ID
Status Completed
Phase N/A
First received February 1, 2012
Last updated July 19, 2016
Start date June 2011
Est. completion date May 2013

Study information
Verified date April 2013
Source Alexion Pharmaceuticals
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review BoardUnited Kingdom: Medicines and Healthcare Products Regulatory AgencyCanada: Health CanadaFrance: Conseil National de l'Ordre des MédecinsCzech Republic: State Institute for Drug ControlItaly: National Bioethics CommitteePoland: National Institute of Medicines
Study type Observational

Clinical Trial 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).

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.

Recruitment information / eligibility
Status Completed
Enrollment 49
Est. completion date May 2013
Est. primary completion date January 2013
Accepts healthy volunteers No
Gender Both
Age group 5 Years and older
Eligibility 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

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

Locations
Country Name City State
Canada Hospital for Sick Kids Toronto
Czech Republic 1st Faculty of Medicine Charles University Prague
France Hôpital Necker-Enfants Malades Paris
Italy Gaslini Institute Genoa
Italy Regina Margherita Hospital Turin
Poland Children's Memorial Health Institute Warsaw
Switzerland Hopitaux Universitares De Geneve Geneve
United Kingdom Birmingham Children's Hospital Birmingham
United Kingdom Addenbrooke's Hospital Cambridge
United Kingdom Salford Royal Salford
United States Children's Memorial Hospital Chicago Illinois
United States University of Minnesota Minneapolis Minnesota
United States Morgan Stanley Children's Hospital of New York-Presbyterian New York New York
United States Children's Hospital of Pittsburgh Pittsburgh Pennsylvania
United States Seattle Children's Seattle Washington
United States Stanford University Stanford California

Sponsors (1)
Lead Sponsor Collaborator
Alexion Pharmaceuticals

Countries where clinical trial is conducted

United States,  Canada,  Czech Republic,  France,  Italy,  Poland,  Switzerland,  United Kingdom, 

Outcome
Type Measure Description Time frame Safety issue
Primary Clinical History Summary Characterize patient demographic data and clinical course of disease using descriptive statistics. Expected average of 15 years No
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