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Related Experiment Video

Updated: Jul 7, 2026

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

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

Published on: December 20, 2017

[Therapeutic objectives in Gaucher disease].

P Mistry¹, D P Germain

¹Yale University School of Medicine, Internal Medicine, 333, Cedar Street, CT 06520, New Haven, USA.

La Revue De Medecine Interne

|January 30, 2008

Summary

Enzyme replacement therapy (ERT) is effective for Gaucher disease (GD), improving symptoms and quality of life when started early. Lifelong treatment with imiglucerase, the standard of care, requires careful monitoring.

Area of Science:

Biochemistry
Genetics
Rare Diseases

Background:

Gaucher disease (GD) is a lysosomal storage disorder caused by acid beta-glucosidase deficiency.
Therapeutic goals aim to reverse phenotype, improve quality of life, and prevent complications.
Optimal timing for enzyme replacement therapy (ERT) is crucial, typically during the asymptomatic phase.

Purpose of the Study:

To outline evidence-based therapeutic goals for Gaucher disease.
To emphasize the importance of early ERT administration for maximal clinical benefit.
To review the efficacy and safety of imiglucerase as the standard of care for type 1 GD.

Main Methods:

Development of evidence-based therapeutic goals by European and North American experts.
Review of clinical data on imiglucerase efficacy in treating type 1 Gaucher disease.

Related Experiment Videos

Last Updated: Jul 7, 2026

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

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

Published on: December 20, 2017

Assessment of the safety and tolerability profile of ERT.

Main Results:

Imiglucerase demonstrates high efficiency in improving bleeding tendencies, anemia, and hepatosplenomegaly.
ERT effectively addresses some skeletal damages and eliminates bone crises in Gaucher disease patients.
ERT exhibits a remarkable safety profile, with over 99% tolerability at 3 years.

Conclusions:

Enzyme replacement therapy with imiglucerase is the standard of care for type 1 Gaucher disease.
Lifelong ERT is necessary and should not be interrupted without careful disease monitoring.
Early intervention with ERT maximizes clinical benefits and improves patient outcomes.