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 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 is an area of research that aims to treat or prevent disease by introducing genetic material into cells. In Gaucher disease, researchers are investigating approaches intended to address the underlying genetic cause of the condition.
Gene therapy can work in different ways:
Not every approach is suitable for every condition. Researchers must determine which method could work for a particular disease and how it can be delivered safely and effectively.
There are different ways to deliver genetic material:
Vectors, sometimes described as carriers, can help deliver genetic material into cells. Developing suitable delivery methods is an important part of gene therapy research.
Some gene therapies are designed to be given as a single treatment. However, the approach, potential benefits, risks and durability of effects depend on the specific therapy. Gene therapy remains investigational for Gaucher disease, and its long-term effects are still being studied.
The American Society of Gene and Cell Therapy provides accessible information about gene therapy approaches, including gene addition, gene silencing and gene editing.
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.
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.
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