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

This study has been completed.
Information provided by:
Alexion Pharmaceuticals
ClinicalTrials.gov Identifier:
First received: April 13, 2011
Last updated: April 30, 2013
Last verified: April 2013
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.

Lysosomal Acid Lipase Deficiency
Wolman Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

Resource links provided by NLM:

Further study details as provided by Alexion Pharmaceuticals:

Primary Outcome Measures:
  • Time to Death [ Time Frame: Up to two years. ] [ Designated as safety issue: No ]
    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.

Estimated Enrollment: 40
Study Start Date: November 2010
Study Completion Date: March 2013
Primary Completion Date: January 2013 (Final data collection date for primary outcome measure)
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.

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later.

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
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT01358370

United States, California
Cedars-Siani Medical Center
Los Angeles, California, United States, 90095-1752
Stanford University
Palo Alto, California, United States
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States
United States, New York
Ney York Presbyterian Hosptial
New York, New York, United States, 10032
Columbia University
New York, New York, United States
North Shore Long Island Jewish Medical Center
New York, New York, United States
United States, Pennsylvania
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
The Hospital for Sick Children
Toronto, Canada
Hospital Necker- Enfants Malades
Paris, France
Instituto Giannina Gaslini- Ospedale Pediatrico IRCCS
Genova, Italy
University of Turin
Turin, Italy
United Kingdom
Birmingham Children's Hosptial NHS Foundation Trust
Birmingham, United Kingdom
Kings College London
London, United Kingdom
Manchester Children's Hosptial
Manchester, United Kingdom
Sponsors and Collaborators
Alexion Pharmaceuticals
  More Information

Responsible Party: Synageva BioPharma Corporation
ClinicalTrials.gov Identifier: NCT01358370     History of Changes
Other Study ID Numbers: LAL-1-NH01 
Study First Received: April 13, 2011
Last Updated: April 30, 2013
Health Authority: United Kingdom: Medicines and Healthcare Products Regulatory Agency
Canada: Health Canada
France: Conseil National de l'Ordre des Médecins
Italy: National Bioethics Committee

Keywords provided by Alexion Pharmaceuticals:
LAL Deficiency
Wolman disease
Wolman Phenotype
Early Onset LAL Deficiency
Acid Lipase Deficiency

Additional relevant MeSH terms:
Wolman Disease
Cholesterol Ester Storage Disease
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on May 26, 2016