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Fetal Therapies and Trials for Lysosomal Storage Diseases: A Survey of Attitudes of Parents and Patients

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source: Orphanet journal of rare diseases

year: 2022

authors: Schwab ME,Brown JEH,Lianoglou B,Jin C,Conroy PC,Gallagher RC,Harmatz P,MacKenzie TC


Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood-brain barrier, and early disease onset and progression before ERT is started. We have opened a phase I clinical trial of enzyme replacement therapy (ERT) for fetuses with LSDs (NCT04532047). We evaluated the attitudes of parents and patients with LSDs towards fetal clinical trials and therapies.

organization: Fetal Treatment Center, University of California, San Francisco, CA, USA.

DOI: 10.1186/s13023-022-02178-z

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