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Updated: Oct 3, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Published on: December 20, 2017

Chaperone Therapy in Fabry Disease.

Frank Weidemann¹, Ana Jovanovic², Ken Herrmann³

¹Department of Medicine I, Klinikum Vest GmbH, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, 45657 Recklinghausen, Germany.

International Journal of Molecular Sciences

|February 15, 2022

Summary

Fabry disease, a genetic disorder, involves alpha-galactosidase A deficiency. Oral chaperone therapy is a new treatment option for eligible patients, offering an alternative to enzyme replacement. Early intervention is key for better outcomes.

Keywords:

Fabry disease chaperone therapy

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Area of Science:

Genetics and rare diseases
Lysosomal storage disorders
Biochemistry of genetic disorders

Background:

Fabry disease is an X-linked genetic disorder caused by mutations in the alpha-galactosidase A (GLA) gene.
This deficiency leads to the accumulation of globotriaosylceramide (GL-3) in various organs, causing multisystem complications.
Current treatments include enzyme replacement therapy (ERT), with oral chaperone therapy emerging as a novel alternative.

Purpose of the Study:

To review the role and efficacy of oral chaperone therapy in managing Fabry disease.
To highlight chaperone therapy as a treatment option for patients with specific amenable mutations.
To emphasize the importance of early therapeutic intervention for long-term patient benefit.

Main Methods:

Review of existing literature on Fabry disease treatments.
Analysis of clinical data and studies on oral chaperone therapy.
Comparison of chaperone therapy with traditional enzyme replacement therapy.

Main Results:

Oral chaperone therapy offers a new therapeutic approach for Fabry disease.
This therapy is suitable for patients with specific GLA gene mutations.
Early initiation of treatment is crucial for mitigating disease progression and improving patient outcomes.

Conclusions:

Chaperone therapy represents a significant advancement in Fabry disease management.
It provides a viable oral alternative to intravenous ERT for select patient populations.
Prompt diagnosis and treatment initiation are paramount for effective Fabry disease care.