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Lysosomal Storage Disorders.

Jacopo Cefalo1,2, Bruno Crestani1,3, Alice Guyard4

  • 1Service de Pneumologie Allergologie et Transplantation, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU INFIRE, Paris, France.

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|October 3, 2025
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Summary
This summary is machine-generated.

Acid sphingomyelinase deficiency (ASMD) is a common lysosomal disease causing interstitial lung disease (ILD). Enzyme replacement therapy (olipudase alfa) shows promising results in improving lung function and organ damage.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pulmonology

Background:

  • Lysosomal diseases (LDs) are rare inherited disorders affecting macromolecule degradation.
  • Acid sphingomyelinase deficiency (ASMD) is the most common LD with lung involvement, presenting as interstitial lung disease (ILD).
  • Respiratory symptoms include infections and exertional dyspnea; ILD is linked to organomegaly and altered lipid profiles.

Purpose of the Study:

  • To summarize the clinical features and diagnostic approaches for ASMD-related ILD.
  • To highlight the efficacy of enzyme replacement therapy (ERT) with olipudase alfa for ASMD.

Main Methods:

  • Review of clinical manifestations, diagnostic findings (foamy cells, enzymatic assay, SMPD1 variants), and treatment outcomes.
  • Analysis of data on olipudase alfa's impact on organ volume, lung function (DLCO), and radiological findings.

Main Results:

  • ASMD-ILD often presents with restrictive lung patterns and reduced DLCO.
  • Diagnosis involves enzymatic assays and genetic testing for SMPD1 variants.
  • Olipudase alfa demonstrated significant improvements in liver/spleen volume, DLCO, and lung imaging.

Conclusions:

  • Early diagnosis of ASMD is crucial for initiating ERT before irreversible organ damage.
  • Enzyme replacement therapy with olipudase alfa offers a promising treatment for ASMD, improving respiratory and systemic manifestations.