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Sebelipase alfa

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https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#1
James E Frampton
Sebelipase alfa (Kanuma(®), Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease. In an ongoing study in nine infants presenting with early-onset LAL-D (Wolman disease), open-label treatment with sebelipase alfa significantly improved 1-year survival compared with historical controls...
November 23, 2016: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#2
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia...
November 10, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#3
REVIEW
Kim Su, Emma Donaldson, Reena Sharma
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27649344/sebelipase-alfa-kanuma-for-lysosomal-acid-lipase-deficiency
#4
(no author information available yet)
No abstract text is available yet for this article.
September 26, 2016: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/27376161/sebelipase-alfa-enzymatic-replacement-treatment-for-lysosomal-acid-lipase-deficiency
#5
REVIEW
D M Paton
Sebelipase alfa was approved for use in 2015 for patients suffering from lysosomal acid lipase deficiency in either of its two forms. The more severe, early-onset form, Wolman disease, occurs in young infants in whom it is normally fatal within the first year of life. Sebelipase alfa has allowed a small number of such infants to achieve a relatively normal growth rate and to survive for 2 or more years. In older children and adults, the enzyme has corrected their dyslipidemia and produced significant improvement in markers of hepatic function...
May 2016: Drugs of Today
https://www.readbyqxmd.com/read/27303095/mepolizumab
#6
Dennis J Cada, Ross J Bindler, Danial E Baker
Each month, subscribers to The Formulary Monograph Service receive 5 to 6 well-documented monographs on drugs that are newly released or are in late phase 3 trials. The monographs are targeted to Pharmacy & Therapeutics Committees. Subscribers also receive monthly 1-page summary monographs on agents that are useful for agendas and pharmacy/nursing in-services. A comprehensive target drug utilization evaluation/medication use evaluation (DUE/MUE) is also provided each month. With a subscription, the monographs are sent in print and are also available on-line...
May 2016: Hospital Pharmacy
https://www.readbyqxmd.com/read/26452566/sebelipase-alfa-first-global-approval
#7
REVIEW
Matt Shirley
Sebelipase alfa (Kanuma™) is a recombinant human lysosomal acid lipase (LAL) developed by Synageva BioPharma Corp. (now Alexion Pharmaceuticals, Inc.) for long-term enzyme replacement therapy in patients with LAL deficiency. The agent, administered by intravenous infusion once weekly or once every other week, acts to replace the deficient enzyme activity in patients with LAL deficiency, reducing lysosomal lipid accumulation, and thereby improving disease-related abnormalities such as dyslipidaemia and liver abnormalities...
November 2015: Drugs
https://www.readbyqxmd.com/read/26352813/a-phase-3-trial-of-sebelipase-alfa-in-lysosomal-acid-lipase-deficiency
#8
RANDOMIZED CONTROLLED TRIAL
Barbara K Burton, Manisha Balwani, François Feillet, Ivo Barić, T Andrew Burrow, Carmen Camarena Grande, Mahmut Coker, Alejandra Consuelo-Sánchez, Patrick Deegan, Maja Di Rocco, Gregory M Enns, Richard Erbe, Fatih Ezgu, Can Ficicioglu, Katryn N Furuya, John Kane, Christina Laukaitis, Eugen Mengel, Edward G Neilan, Scott Nightingale, Heidi Peters, Maurizio Scarpa, K Otfried Schwab, Vratislav Smolka, Vassili Valayannopoulos, Marnie Wood, Zachary Goodman, Yijun Yang, Stephen Eckert, Sandra Rojas-Caro, Anthony G Quinn
BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We 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. METHODS: In this multicenter, randomized, double-blind, placebo-controlled study involving 66 patients, we evaluated the safety and effectiveness of enzyme-replacement therapy with sebelipase alfa (administered intravenously at a dose of 1 mg per kilogram of body weight every other week); the placebo-controlled phase of the study was 20 weeks long and was followed by open-label treatment for all patients...
September 10, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/24993530/sebelipase-alfa-over-52-weeks-reduces-serum-transaminases-liver-volume-and-improves-serum-lipids-in-patients-with-lysosomal-acid-lipase-deficiency
#9
MULTICENTER STUDY
Vassili Valayannopoulos, Vera Malinova, Tomas Honzík, Manisha Balwani, Catherine Breen, Patrick B Deegan, Gregory M Enns, Simon A Jones, John P Kane, Eveline O Stock, Radhika Tripuraneni, Stephen Eckert, Eugene Schneider, Gavin Hamilton, Michael S Middleton, Claude Sirlin, Bruce Kessler, Christopher Bourdon, Simeon A Boyadjiev, Reena Sharma, Chris Twelves, Chester B Whitley, Anthony G Quinn
BACKGROUND & AIMS: Lysosomal acid lipase deficiency is an autosomal recessive enzyme deficiency resulting in lysosomal accumulation of cholesteryl esters and triglycerides. LAL-CL04, an ongoing extension study, investigates the long-term effects of sebelipase alfa, a recombinant human lysosomal acid lipase. METHODS: Sebelipase alfa (1mg/kg or 3mg/kg) was infused every-other-week to eligible subjects. Safety and tolerability assessments, including liver function, lipid profiles and liver volume assessment, were carried out at regular intervals...
November 2014: Journal of Hepatology
https://www.readbyqxmd.com/read/24792990/lysosomal-acid-lipase-deficiency-an-under-recognized-cause-of-dyslipidaemia-and-liver-dysfunction
#10
REVIEW
Željko Reiner, Ornella Guardamagna, Devaki Nair, Handrean Soran, Kees Hovingh, Stefano Bertolini, Simon Jones, Marijana Ćorić, Sebastiano Calandra, John Hamilton, Terence Eagleton, Emilio Ros
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy...
July 2014: Atherosclerosis
https://www.readbyqxmd.com/read/23624251/hepatic-cholesteryl-ester-accumulation-in-lysosomal-acid-lipase-deficiency-non-invasive-identification-and-treatment-monitoring-by-magnetic-resonance
#11
MULTICENTER STUDY
Peter E Thelwall, Fiona E Smith, Mark C Leavitt, David Canty, Wei Hu, Kieren G Hollingsworth, Christian Thoma, Michael I Trenell, Roy Taylor, Joseph V Rutkowski, Andrew M Blamire, Anthony G Quinn
BACKGROUND & AIMS: Lysosomal Acid Lipase (LAL) deficiency is a rare metabolic storage disease, caused by a marked reduction in activity of LAL, which leads to accumulation of cholesteryl esters (CE) and triglycerides (TG) in lysosomes in many tissues. We used (1)H magnetic resonance (MR) spectroscopy to characterize the abnormalities in hepatic lipid content and composition in patients with LAL deficiency, and in ex vivo liver tissue from a LAL deficiency rat model. Secondly, we used MR spectroscopy to monitor the effects of an enzyme replacement therapy (ERT), sebelipase alfa (a recombinant human lysosomal acid lipase), on hepatic TG and CE content in the preclinical model...
September 2013: Journal of Hepatology
https://www.readbyqxmd.com/read/23348766/clinical-effect-and-safety-profile-of-recombinant-human-lysosomal-acid-lipase-in-patients-with-cholesteryl-ester-storage-disease
#12
MULTICENTER STUDY
Manisha Balwani, Catherine Breen, Gregory M Enns, Patrick B Deegan, Tomas Honzík, Simon Jones, John P Kane, Vera Malinova, Reena Sharma, Eveline O Stock, Vassili Valayannopoulos, J Edmond Wraith, Jennifer Burg, Stephen Eckert, Eugene Schneider, Anthony G Quinn
UNLABELLED: Cholesteryl ester storage disease (CESD), an inherited deficiency of lysosomal acid lipase (LAL), is an underappreciated cause of progressive liver disease with no approved therapy. Presenting features include dyslipidemia, elevated transaminases, and hepatomegaly. To assess the clinical effects and safety of the recombinant human LAL, sebelipase alfa, nine patients received four once-weekly infusions (0.35, 1, or 3 mg·kg(-1) ) in LAL-CL01, which is the first human study of this investigational agent...
September 2013: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
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