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Updated: Jan 16, 2026
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
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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.
Seminars in Respiratory and Critical Care Medicine
|October 3, 2025
Summary
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.
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.
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