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

June 23, 2016 updated by: Alexion
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.

Study Overview

Status

Completed

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

40

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
    • Ontario
      • Toronto, Ontario, Canada, M5G 1X8
        • The Hospital for Sick Children
  • France
      • Paris, France, 75015
        • Hospital Necker- Enfants Malades
  • Italy
      • Genova, Italy
        • Instituto Giannina Gaslini- Ospedale Pediatrico IRCCS
      • Turin, Italy, 10124
        • University of Turin
  • United Kingdom
      • Birmingham, United Kingdom, B4 6NH
        • Birmingham Children's Hospital NHS Foundation Trust
      • London, United Kingdom, WC2R 2LS
        • Kings College London
      • Manchester, United Kingdom, M13 9Wl
        • Manchester Children's Hospital
  • United States
    • California
      • Los Angeles, California, United States, 90095-1752
        • Cedars-Siani Medical Center
      • Palo Alto, California, United States, 94305
        • Stanford University
    • Minnesota
      • Minneapolis, Minnesota, United States, 55455
        • University of Minnesota
    • New York
      • New York, New York, United States, 10027
        • Columbia University
      • New York, New York, United States, 10032
        • Ney York Presbyterian Hosptial
      • New York, New York, United States, 11040
        • North Shore Long Island Jewish Medical Center
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15224
        • Children's Hospital of Pittsburgh

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

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later.

Description

Inclusion Criteria:

  • Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later provided they have required data points in their medical records.

Exclusion Criteria:

  • Patients will be excluded from the study if the required data points for inclusion are not available.
  • Living LAL deficiency/Wolman phenotype patients will be excluded

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Up to two years.

Collaborators and Investigators

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

Sponsor

Alexion

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.

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

November 1, 2010

Primary Completion (Actual)

January 1, 2013

Study Completion (Actual)

March 1, 2013

Study Registration Dates

First Submitted

April 13, 2011

First Submitted That Met QC Criteria

May 19, 2011

First Posted (Estimate)

May 23, 2011

Study Record Updates

Last Update Posted (Estimate)

June 27, 2016

Last Update Submitted That Met QC Criteria

June 23, 2016

Last Verified

June 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • LAL-1-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.

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