Gene therapy for Gaucher disease
Last updated April 30, 2025, by Marisa Wexler, MS
Fact-checked by Ines Martins, PhD
Gene therapy is an experimental strategy that’s intended to address the underlying cause of Gaucher disease by delivering a working copy of the faulty gene to certain cells in the body.
While no approved gene therapies exist for Gaucher disease, several experimental treatments are in clinical development. These hold promise as a one-time Gaucher disease treatment, potentially offering a lasting cure for the disease.
What is gene therapy?
Gene therapy is a broad term used to describe any treatment that modifies the genetic code inside of a person’s cells. Depending on the specific disease, this may involve introducing a healthy copy of a faulty gene, silencing a disease-causing gene, or delivering other genes to help compensate or counteract certain disease mechanisms.
Gaucher disease is caused by mutations in the GBA1 gene. This gene codes for an enzyme called glucocerebrosidase (GCase) that’s needed to break down certain fatty molecules inside cells. GCase enzyme deficiency in Gaucher disease leads to a toxic buildup of these molecules, driving disease symptoms.
The overarching goal of gene therapy for Gaucher disease is to deliver a working version of the GBA1 gene to cells, enabling them to produce a functional GCase enzyme that can clear the excess fatty molecules.
A variety of strategies can be used in gene therapy. Most gene therapies in development for Gaucher disease use a modified virus — called an adeno-associated virus (AAV) — as a delivery vehicle to insert the therapeutic gene into cells.
AAV is commonly used in viral vector gene therapy research because it’s considered safe and has a low risk of triggering an immune response. AAV vectors also don’t incorporate their DNA into the cell’s genome, which could disrupt important genes and lead to serious side effects.
Other emerging therapies — such as CRISPR for Gaucher disease, which can permanently change a cell’s genetic code — are being studied, but remain in early, preclinical stages of research.
Potential benefits of gene therapy for Gaucher disease
Because gene therapies for Gaucher disease are still in the experimental stages, their potential benefits haven’t been fully established. Still, researchers hope this approach could offer a one-time Gaucher disease treatment that addresses the root cause of the disease, with the potential to slow its progression or even eliminate symptoms.
Gene therapy may serve as an alternative to enzyme replacement therapy and substrate reduction therapy, standard therapies that must be taken regularly throughout a person’s life. Unlike these approved treatments, gene therapy may theoretically provide lasting benefits with a single treatment.
Most gene therapies are being developed for treating Gaucher disease type 1, the most common disease type which is marked by the absence of neurological problems. But some are being investigated for types 2 and 3, which are marked by severe and milder neurological complications, respectively.
Currently available therapies don’t effectively reach the brain and cannot treat the neurological manifestations of Gaucher disease, but gene therapies may be able to overcome this limitation.
Gene therapies in clinical development
Although no gene therapy has been approved yet for Gaucher disease, several experimental treatments are being tested in clinical trials. These include:
- PR001
- FLT201
- VGN-R08b
- LY-M001.
PR001
Developed by Prevail Therapeutics, a subsidiary of Eli Lilly and Company, PR001 is being investigated as a treatment for Gaucher disease type 1. While it was being tested in a clinical trial for type 2 disease, the development program for that type was discontinued in early 2024.
A Phase 1/2 clinical trial called PROCEED (NCT05487599) is testing PR001 in adults with Gaucher disease type 1. The study is expected to enroll around 15 participants on standard therapies, all of whom will receive a single infusion of PR001, administered into the bloodstream. Patients will be followed over five years, with results expected in 2030.
FLT201
FLT201 is being developed by Spur Therapeutics as a one-time treatment for Gaucher disease type 1, administered as a single infusion into the bloodstream. It delivers a healthy copy of the GBA1 gene to cells in the liver, enabling them to produce high levels of GCase and secrete it into the bloodstream.
In a Phase 1/2 trial called GALILEO-1 (NCT05324943), six adults with Gaucher type 1 were treated with FLT201 while on standard therapies. Results showed that most patients were able to stop their current genetic disorder treatment without worsening symptoms. A long-term follow-up study called GALILEO-2 (NCT06545136) is ongoing.
Spur plans to launch a Phase 3 trial in late 2025, which may be used to support regulatory approval if results are positive.
VGN-R08b
VGN-R08b is being developed by Shanghai Tianze Yuntai Biopharmaceutical for Gaucher disease types 2 and 3. It’s designed to be injected into the cerebral ventricles, or the fluid-filled spaces within the brain.
The treatment is being tested in a Phase 1 trial (NCT06272149) in children ages 2 and younger with Gaucher disease type 2. The study is expected to conclude in 2029.
LY-M001
Lingyi Biotec is developing LY-M001 for Gaucher disease types 1 and 3. The therapy is given as a one-time infusion and is intended to deliver a healthy copy of the GBA1 gene to liver cells.
A Phase 1/2 study (NCT06818838) is testing LY-M001 in adults with Gaucher type 1 who are either untreated or receiving a stable dose of standard medications. The study is expected to enroll about 18 participants, all of whom will receive a single infusion of LY-M001. Initial results are expected in 2027.
Potential side effects or complications from gene therapy
As with any medical treatment, gene therapies carry the potential for side effects and complications. However, because gene therapy for Gaucher disease is still in early stages of clinical testing, its safety profile isn’t well understood. It’s also unclear if there are specific risk factors that might make some people more likely to have adverse reactions.
One important concern about viral vector gene therapies is the possibility of the body mistaking the modified virus as a threat and launching an immune attack against it.
This type of reaction may reduce the therapy’s effectiveness by clearing the viral vector before it delivers the therapeutic gene to enough cells or destroying the modified cells. In other diseases, an immune reaction to gene therapy has caused liver damage and other serious complications in some cases, including rare cases of fatal outcomes.
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