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

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Gene therapy for lysosomal storage diseases.

Hiroshi Kobayashi¹

¹Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, 3-5-28, Nishi-Shimbashi, Minato-ku, Tokyo 105-8461, Japan.

Brain & Development

|August 9, 2025

Summary

Gene therapy shows promise for lysosomal storage diseases (LSDs), but safety concerns necessitate further research. Understanding these metabolic disorders is key to developing effective and safe treatments.

Keywords:

Cross-correction Enzyme replacement therapy Ex vivo gene therapy Hematopoietic stem cell transplantation In vivo gene therapy Lysosomal storage diseases

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Area of Science:

Biochemistry
Genetics
Molecular Biology

Background:

Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders.
These conditions arise from enzyme deficiencies within lysosomes, leading to cellular dysfunction.
LSDs exhibit diverse clinical presentations.

Purpose of the Study:

To review the potential of gene therapy for treating LSDs.
To highlight the current status of gene therapy clinical trials for LSDs.
To emphasize the critical need for safety research in LSD gene therapy.

Main Methods:

Review of existing literature on LSDs and gene therapy.
Analysis of approved gene therapy products and ongoing clinical trials.
Examination of reported adverse events associated with gene therapy for LSDs.

Main Results:

LSDs are often monogenic, making them suitable candidates for gene therapy.
Several gene therapy products for LSDs are in advanced clinical trials.
Serious adverse events have been documented, even with previously safe-seeming approaches.

Conclusions:

Gene therapy offers a promising therapeutic avenue for LSDs.
Ongoing research must prioritize the safety and efficacy of gene therapy interventions.
Further investigation is crucial to mitigate risks and optimize gene therapy outcomes for patients with LSDs.