Exploring new possibilities for Gaucher disease
Gene therapy is being investigated as a potential way to address the underlying genetic cause of Gaucher disease. Different approaches are being studied to introduce
functional genetic material into cells and increase production of the glucocerebrosidase enzyme.
Several gene therapy approaches are currently being investigated in Gaucher disease.
They differ in their technology, delivery methods and the types of Gaucher disease being studied.
An investigational AAV-based gene therapy being studied in adults with Type 1 Gaucher disease.
An investigational gene therapy being studied in adults with Type 1 Gaucher disease.
An investigational AAV-based gene therapy being studied in adults with Type 1 Gaucher disease.
An investigational gene therapy being studied in infants with Type 2 Gaucher disease.
Gene therapy aims to introduce genetic material into cells to modify how they function. In Gaucher disease, researchers are investigating approaches that could enable cells to produce functional glucocerebrosidase. Different approaches are being studied, including in vivo and ex vivo gene therapy.
A successful gene therapy could potentially provide a longer-lasting source of functional glucocerebrosidase following treatment. However, important questions remain about safety, effectiveness, durability and long-term effects. Research is continuing.
The IGA works with researchers, clinicians and industry to ensure that the experiences and priorities of people affected by Gaucher disease are considered in the development of new treatments. The IGA has also supported education and engagement around gene therapy, including patient and caregiver research and educational webinars.
The IGA works with researchers, clinicians and industry to ensure that the experiences and priorities of people affected by Gaucher disease are considered in the development of new treatments. The IGA has also supported education and engagement around gene therapy, including patient and caregiver research and educational webinars.
Gene therapy is a rapidly developing field, and long-term evidence in Gaucher disease remains limited.
Important questions include how long the effects will last, how effective gene therapy will be across different manifestations, how immune responses may affect treatment and what the potential short- and long-term risks are.
Research is continuing to answer these questions.
In 2023, the IGA published an international survey exploring patient and parent/caregiver perceptions of gene therapy in Gaucher disease.
The IGA has also organised educational webinars about gene therapy clinical trials in different regions and languages to improve access to information.
Subscribe to our newsletter for updates on research, webinars and resources from the IGA.
Registered Charity Number: 1192011
Company Limited by Guarantee Registered in England & Wales No. 06653373
This website is supported by our funders. The International Gaucher Alliance maintains full editorial independence, and our funders have no influence over the content published on this website.
© 2026 International Gaucher Alliance. All rights reserved.
