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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase
DEFINITIONS
Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism.
Invastigators conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and severe dyslipidemia.
MEDICAL STUDY
In the current study, fibrosis and cirrhosis were seen in patients at an early age at a substantially higher frequency than that observed in patients with other chronic non----cholestatic liver diseases.
The study involving 67 children with biopsy-proven nonalcoholic fatty liver disease, clinically significant fibrosis was seen in only 15% of the patients and cirrhosis was not observed in any patient.
As is the case with other chronic liver diseases, the progression of fibrosis is probably related to the persistence of the injurious agent, because current therapies for lysosomal acid lipase deficiency do not appear to reduce the abnormal lysosomal lipid levels in the liver substantially. Characteristics at baseline, including portal hypertension, hyperbilirubinemia, thrombocytopenia, disturbed coagulation, splenomegaly, and short stature, provide evidence of progression to advanced liver disease.
Lysosomal acid lipase deficiency is an underrecognized genetic cause of cirrhosis and severe dyslipidemia that can, according to reports, cause atherosclerotic cardiovascular disease early in life. Although statins and other lipid-lowering medications may reduce LDL cholesterol levels, levels remain high and there is continued progression to cirrhosis.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
Results
Enzyme-replacement therapies have substantially changed the outlook for patients with lysosomal storage disorders.
The results of our study showed the effectiveness and safety of enzyme-replacement therapy with sebelipase alfa in children and adults with lysosomal acid lipase deficiency.
Claudia Morales Valdano
CONCLUSION
In conclusion, cirrhosis and severe dyslipidemia often develop at an early age in patients with lysosomal acid lipase deficiency.
Medical Student
Universidad Católica de Santiago de Guayaquil