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

Completed

• Conditions: Lysosomal Acid Lipase Deficiency; Wolman Disease

• Registration Number: NCT01358370
• Lead Sponsor: Alexion Pharmaceuticals, Inc.

Brief Summary

This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.

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 Timeline

• Study Start: 2010-11
• Study First Submitted: 2011-04-13
• Study First Submitted QC: 2011-05-19
• Study First Posted: 2011-05-23
• Primary Completion: 2013-01
• Study Completion: 2013-03
• Status Verified: 2016-06
• Last Update Submitted: 2016-06-23
• Last Update Posted: 2016-06-27

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 40

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Time to Death	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.

Trial Locations

Locations (14)

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

Cedars-Siani Medical Center; 🇺🇸 Los Angeles, California, United States

Columbia University; 🇺🇸 New York, New York, United States

Ney York Presbyterian Hosptial; 🇺🇸 New York, New York, United States

North Shore Long Island Jewish Medical Center; 🇺🇸 New York, New York, United States

Kings College London; 🇬🇧 London, United Kingdom

The Hospital for Sick Children; 🇨🇦 Toronto, Ontario, Canada

Hospital Necker- Enfants Malades; 🇫🇷 Paris, France

Birmingham Children's Hospital NHS Foundation Trust; 🇬🇧 Birmingham, United Kingdom

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

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

Instituto Giannina Gaslini- Ospedale Pediatrico IRCCS; 🇮🇹 Genova, Italy

University of Turin; 🇮🇹 Turin, Italy

Stanford University; 🇺🇸 Palo Alto, California, United States