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NCT01358370 Clinical Trial

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

Lysosomal Acid Lipase Deficiency Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT01358370
Other study ID # LAL-1-NH01
Secondary ID
Status Completed
Phase N/A
First received April 13, 2011
Last updated June 23, 2016
Start date November 2010
Est. completion date March 2013

Study information
Verified date June 2016
Source Alexion Pharmaceuticals
Contact n/a
Is FDA regulated No
Health authority United Kingdom: Medicines and Healthcare Products Regulatory AgencyCanada: Health CanadaFrance: Conseil National de l'Ordre des MédecinsItaly: National Bioethics Committee
Study type Observational

Clinical Trial 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.

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.

Recruitment information / eligibility
Status Completed
Enrollment 40
Est. completion date March 2013
Est. primary completion date January 2013
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility 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

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

Locations
Country Name City State
Canada The Hospital for Sick Children Toronto Ontario
France Hospital Necker- Enfants Malades Paris
Italy Instituto Giannina Gaslini- Ospedale Pediatrico IRCCS Genova
Italy University of Turin Turin
United Kingdom Birmingham Children's Hospital NHS Foundation Trust Birmingham
United Kingdom Kings College London London
United Kingdom Manchester Children's Hospital Manchester
United States Cedars-Siani Medical Center Los Angeles California
United States University of Minnesota Minneapolis Minnesota
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 Stanford University Palo Alto California
United States Children's Hospital of Pittsburgh Pittsburgh Pennsylvania

Sponsors (1)
Lead Sponsor Collaborator
Alexion Pharmaceuticals

Countries where clinical trial is conducted

United States,  Canada,  France,  Italy,  United Kingdom, 

Outcome
Type Measure Description Time frame Safety issue
Primary Time to Death 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. No
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