"Patients with LAL-D often develop cirrhosis and severe dyslipidemia at an early age. Unfortunately, historical treatment approaches have not been effective in changing the devastating course of the disease," said lead study author
LAL-D is caused by genetic mutations that result in a marked decrease or loss in LAL enzyme activity in the lysosomes across multiple body tissues, leading to the chronic build-up of cholesteryl esters and triglycerides in the liver, blood vessel walls and other tissues. Patients with LAL-D often experience a rapid onset of life-threatening disease manifestations, and many patients may be asymptomatic until they experience a severe consequence of the disease.2,3
"LAL-D is a devastating and ultra-rare disorder in which half of children and adults will progress to fibrosis, cirrhosis, or liver transplant in three years," said
In addition to the NEJM publication, the
On
About the ARISE Study1
The multicenter, randomized, placebo-controlled ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) study of children and adults with LAL-D included a 20-week double-blind treatment period and an ongoing open-label period. Sixty-six patients (ages 4-58 years) were enrolled in the study (36 received Kanuma and 30 received placebo) and 65 patients entered the open-label period. Most patients (47/66) were under 18 years of age. All 66 patients had an elevated ALT at baseline (≥1.5 times the upper limit of normal). The primary efficacy endpoint was normalization of ALT levels. Additional efficacy endpoints included evaluations of other biochemical markers of liver function, serum lipid levels, hepatic fat content, organ volume, and liver histopathology in a subset of patients. Baseline assessments demonstrated significant disease burden in the patient population studied.
For the primary efficacy endpoint, Kanuma was associated with a significantly greater proportion of patients achieving ALT normalization compared with placebo (31% vs. 7%, p=0.03). In addition, patients treated with Kanuma showed significant improvement versus placebo in six secondary endpoints, including change in LDL cholesterol (-28.4% vs. -6.2%, p < 0.001), change in non-HDL cholesterol (-28.0% vs. -6.9%, p < 0.
A reduction in steatosis occurred more frequently in the Kanuma group than in the placebo group but the difference did not reach significance. While patients in the Kanuma group had greater reductions in liver volume compared with placebo, the pre-specified hypothesis testing nullified the significance of this secondary endpoint.
Three serious adverse events were reported during the 20-week double-blind period; two were in the Kanuma group with one considered treatment-related (an infusion-related reaction that was assessed as serious). Infusion-associated reactions were uncommon. The most common treatment-emergent adverse events that were more frequent in patients receiving Kanuma than placebo were headache (28%), fever (25%), oropharyngeal pain (17%), nasopharyngitis (11%), asthenia (8%), constipation (8%), and nausea (8%).
In addition, preliminary results from the open-label study period were included in today's publication and demonstrated further improvements in LDL cholesterol and non-HDL cholesterol. ALT and LDL cholesterol levels that were persistently elevated in patients receiving placebo during the double-blind period markedly decreased when those patients entered the open-label period and began treatment with Kanuma. The safety profile of Kanuma during the open-label period was consistent with that observed in the double-blind period.
About Lysosomal Acid Lipase Deficiency (LAL-D)
LAL-D is a genetic, chronic and progressive ultra-rare metabolic disease associated with significant morbidity and premature mortality. In patients with LAL-D, genetic mutations result in decreased activity of the LAL enzyme. This leads to marked accumulation of cholesteryl esters and triglycerides in vital organs, blood vessels, and other tissues, resulting in progressive and multi-organ damage including fibrosis, cirrhosis, liver failure, accelerated atherosclerosis, cardiovascular disease, and other devastating consequences.2,3
LAL-D affects patients of all ages with clinical manifestations from infancy through adulthood and may have sudden and unpredictable clinical complications. Infants experience profound growth failure, liver fibrosis, and cirrhosis with a median age of death at 3.7 months.6 In an observational study, approximately 50% of children and adults with LAL-D progressed to fibrosis, cirrhosis, or liver transplant in 3 years.7 The median age of onset of LAL-D is 5.8 years and the disease can be diagnosed with a simple blood test.4,8
About Kanuma™ (sebelipase alfa)
Kanuma™ (sebelipase alfa) is an innovative enzyme replacement therapy designed to address the underlying cause of lysosomal acid lipase deficiency (LAL-D) by aiming to reduce substrate accumulation in the lysosomes of cells throughout the body, including the liver, to prevent vital organ damage and premature death.
Kanuma is approved in the
About
[ALXN-G]
Forward-Looking Statements
This news release contains forward-looking statements, including statements related to potential medical benefits of Kanuma™ (sebelipase alfa) for lysosomal acid lipase deficiency (LAL-D), expectations regarding the
References
- Burton BK, Balwani M, Feillet F, et al. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency. N Engl J Med 2015; 373:1010-20.
- Bernstein DL, et al. Chloesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58:1230-43. doi:10.1016/j.jhep.2013.02.014.
- Reiner Z, et al. Lysosomal acid lipase deficiency - an under-recognized cause of dyslipidemia and liver dysfunction. Atherosclerosis. 2014;235:21-30. doi:10.1016/j.atherosclerosis.2014.04.003.
- Burton et al. Clinical Features of Lysosomal Acid Lipase Deficiency - a Longitudinal Assessment of 48 Children and Adults.
Journal of Pediatric Gastroenterology & Nutrition (2015). doi: 10.1097/MPG.0000000000000935 - Kanuma Summary of Product Characteristics.
- Jones S, et al. Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency. Mol Genet Metab. 2014 Feb;111(2):S57-58.
- Data on file. Study LAL-2-NH01.
- Hamilton J, et al. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.
Clin Chim Acta . 2012;413:1207-10. doi:10.1016/j.cca.2012.03.019.
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