ArticleAdvances in therapy2026
Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.
Article in Advances in therapy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionLysosomal acid lipase deficiency (LAL-D) is a rare inherited lysosomal storage disease leading to accumulation of lipids in organs and tissues. Severity varies from a rapidly progressive infantile form to a less severe, later-onset form. This study aimed to describe patients with LAL-D identified between 2007 and 2020, their treatment, and the burden of disease in France.
methodsA retrospective longitudinal study was conducted using nationwide claims data from the French National Health Data System (SNDS). Male and female patients were identified as having a diagnosis of LAL-D or having been administered sebelipase alfa, the only approved treatment.
resultsOf 43 patients with LAL-D identified, 17 and 26 had the infantile and later-onset forms, respectively. Frequent symptoms among infants and children included hepatomegaly, splenomegaly, and malnutrition or failure to thrive. Sebelipase alfa was administered to 10 patients with each LAL-D form. Several patients with the infantile form had hepatic complications, including portal hypertension, fibrosis, cirrhosis, and hepatic failure. Three patients, none of whom were treated with sebelipase alfa, died during the study period before the age of 2 years. The later-onset form of LAL-D was associated with hepatic complications among younger patients and cardiovascular events among older patients. Some patients with the later-onset form were treated with sebelipase alfa. Sebelipase alfa is not commercially available in France for symptomatic LAL-D in patients older than 2 years of age at disease onset; therefore, these patients may have started treatment in a clinical trial or based on a compassionate individual access. Most patients in this study were treated with lipid-lowering medications; however, several patients remained untreated.
conclusionThis descriptive study based on claims data confirmed the severity of LAL-D and the need to define the best management, considering the heterogeneity of the patients.
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