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Introduction <p>Lysosomal 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.</p> Methods <p>A 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.</p> Results <p>Of 43 patients with LAL-D identified, 17 and 26&#xa0;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&#xa0;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&#xa0;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.</p> Conclusion <p>This 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.</p>

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Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月24日

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  • Florence Lacaille,
  • Sophie Marguet,
  • Vanessa Rascon Velasco,
  • Reyhan Hasanova,
  • Ekbel Amri,
  • Hélène Chevrou-Severac,
  • Florian Abel,
  • Gérard de Pouvourville,
  • Vlad Ratziu,
  • François Feillet

摘要

Introduction

Lysosomal 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.

Methods

A 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.

Results

Of 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.

Conclusion

This 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.