Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Enzyme-replacement therapy for metabolic storage disorders.

Roscoe O Brady1, Raphael Schiffmann

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1260, USA. rb57v@nih.gov

The Lancet. Neurology
|November 24, 2004
PubMed
Summary

Enzyme-replacement therapy (ERT) is a standard treatment for Gaucher

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Cannabis and tobacco co-use predicts psychosis in clinical high risk cohorts.

Nature. Mental health·2026
Same author

Tobacco Use is Related to Parietal-Hippocampal Connectivity in People at Clinical High Risk for Psychosis.

medRxiv : the preprint server for health sciences·2026
Same author

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.

Molecular genetics and metabolism·2026
Same author

Cannabis and Tobacco Co-Use Is Associated With Impaired Neurocognitive Performance in Individuals at Clinical High Risk for Psychosis.

Biological psychiatry. Cognitive neuroscience and neuroimaging·2026
Same author

<i>PTPN1</i>-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

medRxiv : the preprint server for health sciences·2026
Same author

A Novel Therapeutic Mechanism for Nicotine Craving in Schizophrenia.

medRxiv : the preprint server for health sciences·2026

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Enzyme-replacement therapy (ERT) is established for type 1 Gaucher's disease, improving key clinical markers.
  • ERT is being investigated for other metabolic storage disorders, including Fabry's, Pompe's, Hurler's, and Maroteaux-Lamy syndromes.
  • Published trial results for ERT in these rare diseases show generally encouraging, though variable, responses.

Purpose of the Study:

  • To review the current status and future directions of enzyme-replacement therapy (ERT) for lysosomal storage disorders.
  • To highlight critical areas for improvement in ERT, including outcome quantification and targeted enzyme delivery.
  • To discuss emerging strategies for addressing central and peripheral nervous system damage in specific patient groups.

Main Methods:

  • Review of published clinical trial data and scientific literature on enzyme-replacement therapy.
  • Analysis of the efficacy and limitations of ERT in Gaucher's disease and four other metabolic storage disorders.
  • Exploration of novel technological approaches for enhancing ERT delivery and effectiveness.

Main Results:

  • ERT has demonstrated significant clinical benefits in Gaucher's disease.
  • Responses to ERT in Fabry's, Pompe's, Hurler's, and Maroteaux-Lamy syndromes are variable, with limited benefit in some cases (e.g., Fabry's disease).
  • Challenges remain in quantifying ERT benefits, delivering enzymes to specific tissues (e.g., cardiac, neural), and treating central nervous system involvement.

Conclusions:

  • Further development of severity-score indices is needed to objectively measure ERT benefits.
  • Novel drug delivery technologies are crucial for targeting enzymes to affected organs like the heart, kidneys, and muscles.
  • Addressing neurological damage in specific phenotypes of these genetic disorders is a key future challenge for ERT.

Related Experiment Videos