Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization [PDF]
JIMD Reports, 2019 Allergic immune‐mediated hypersensitivity reactions are known potential complications of enzyme replacement therapy. Sebelipase alfa, recombinant lysosomal acid lipase (LAL), is a potentially life‐altering treatment for patients with LAL deficiency ...
Gregory M Enns +2 more
exaly +7 more sources
The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency [PDF]
Therapeutic Advances in Gastroenterology, 2017 Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype.
Angelika L. Erwin
exaly +6 more sources
Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa [PDF]
The Application of Clinical Genetics, 2016 Kim Su,1 Emma Donaldson,1 Reena Sharma2 1Division of Gastroenterology/Hepatology, 2The Mark Holland Metabolic Unit, Salford Royal Hospital NHS Foundation Trust, Salford, UK Abstract: Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of ...
Emma Donaldson
exaly +8 more sources
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease [PDF]
Orphanet Journal of Rare DiseasesBackground Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related ...
Simon Jones +2 more
exaly +6 more sources
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies [PDF]
Orphanet Journal of Rare Diseases, 2021 Background If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme activity.
Simon Jones +2 more
exaly +3 more sources
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]
Molecular Genetics and Metabolism Reports, 2019 We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in ...
Dominik Spira +2 more
exaly +4 more sources
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up. [PDF]
Orphanet J Rare Dis, 2021 Background Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of age.
Demaret T +14 more
europepmc +5 more sources
Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study [PDF]
Liver International, 2020 Abstract Background and Aims Lysosomal acid lipase deficiency is characterized by hepatomegaly and dyslipidaemia, which can lead to cirrhosis and premature atherosclerosis. Sebelipase alfa is an approved recombinant human lysosomal acid lipase. In an open‐label extension study of adults with lysosomal acid lipase deficiency (LAL‐CL04), sebelipase alfa ...
Manisha Balwani +2 more
exaly +3 more sources
Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies. [PDF]
Orphanet J Rare Dis, 2021 An amendment to this paper has been published and can be accessed via the original article.
Vijay S +6 more
europepmc +2 more sources
Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia. [PDF]
JACC Case Rep, 2023 Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH).
Sheth S, Toth PP, Baum SJ, Aggarwal M.
europepmc +2 more sources