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

July 19, 2016 updated by: Alexion Pharmaceuticals

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).

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Actual)

49

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
      • Toronto, Canada
        • Hospital for Sick Kids
  • Czech Republic
      • Prague, Czech Republic
        • 1st Faculty of Medicine Charles University
  • France
      • Paris, France
        • Hopital Necker-Enfants Malades
  • Italy
      • Genoa, Italy
        • Gaslini Institute
      • Turin, Italy
        • Regina Margherita Hospital
  • Poland
      • Warsaw, Poland
        • Children's Memorial Health Institute
  • Switzerland
      • Geneve, Switzerland
        • Hopitaux Universitares De Geneve
  • United Kingdom
      • Birmingham, United Kingdom
        • Birmingham Children's Hospital
      • Cambridge, United Kingdom
        • Addenbrooke's Hospital
      • Salford, United Kingdom
        • Salford Royal
  • United States
    • California
      • Stanford, California, United States, 94305
        • Stanford University
    • Illinois
      • Chicago, Illinois, United States, 60614
        • Children's Memorial Hospital
    • Minnesota
      • Minneapolis, Minnesota, United States, 55455
        • University of Minnesota
    • New York
      • New York, New York, United States, 10032
        • Morgan Stanley Children's Hospital of New York-Presbyterian
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15224
        • Children's Hospital of Pittsburgh
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children's

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Clinical History Summary
Time Frame: Expected average of 15 years
Characterize patient demographic data and clinical course of disease using descriptive statistics.
Expected average of 15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Alexion Pharmaceuticals

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2011

Primary Completion (Actual)

January 1, 2013

Study Completion (Actual)

May 1, 2013

Study Registration Dates

First Submitted

February 1, 2012

First Submitted That Met QC Criteria

February 7, 2012

First Posted (Estimate)

February 8, 2012

Study Record Updates

Last Update Posted (Estimate)

July 20, 2016

Last Update Submitted That Met QC Criteria

July 19, 2016

Last Verified

April 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • LAL-2-NH01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Lysosomal Acid Lipase Deficiency

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Congo

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe