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Abstract
Background and objective: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first clinical manifestation to first documentation of hepatic fibrosis, cirrhosis, or liver transplantation from an observational study of pediatric and adult patients with LAL-D (clinical trial registration: NCT01528917).
Methods: Data were analyzed from 31 patients with available biopsy data and 1 patient without biopsy data who had undergone liver transplantation. Time to first documentation of fibrosis, cirrhosis, or liver transplantation following the first LAL-D clinical manifestation was estimated using Kaplan–Meier analysis.
Results: The median time to an event was 3.1 years.
Conclusions: These findings illustrate the progression of liver damage in LAL-D and the elevated risk for liver transplantation among children and adults with LAL-D.
Transparency
Declaration of funding
This study was sponsored by Alexion Pharmaceuticals Inc.
Author contributions: All authors participated in the interpretation of the data, and helped to revise the manuscript. All authors read and approved the final manuscript and agree to be accountable for all aspects of the work.
Declaration of financial/other relationships
B.K.B. has disclosed that she has received funding for the conduct of clinical trials from Alexion Pharmaceuticals Inc., BioMarin Pharmaceutical Inc., Shire, Genzyme, and Ultragenyx Pharmaceutical Inc.; funding for independent research and/or education from ArmaGen, BioMarin, and Shire; and consulting fees and honoraria from ArmaGen, BioMarin, Shire, Alexion, Genzyme, and Regenxbio. N.S. and S.M. have disclosed that they are employees and stockholders of Alexion Pharmaceuticals Inc.
CMRO peer reviewers on this manuscript have no relevant financial or other relationships to disclose.
Acknowledgments
Editorial and medical writing support was provided by Michael D. Morren RPh MBA of Peloton Advantage LLC and was funded by Alexion Pharmaceuticals Inc.