Gene therapy for Gaucher disease

Last updated July 27, 2026, by Marisa Wexler, MS
✅ Fact-checked by Ines Martins, PhD
Medically reviewed by Stuart Ditchek, MD

 

Gene therapy is an experimental strategy 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

Drug development is rigorous and composed of four stages. Preclinical testing takes place in the lab, often including experiments in cells and animal models, and is followed by Phase 1 testing, which is focused on safety. Phase 2 clinical trials then focus on preliminary efficacy and dosing, while Phase 3 studies aggregate further efficacy data and confirm safety in a larger number of participants.

Although no gene therapy has been approved yet for Gaucher disease, several experimental treatments are being tested in clinical trials. These include:

  • PR001
  • avigbagene parvec (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.

Avigbagene parvec

Avigbagene parvec 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.

Results from the Phase 1 GALILEO-1 trial (NCT05324943), which involved six adults with Gaucher type 1, and a long-term extension study, GALILEO-2 (NCT06545136), showed that most patients were able to stop their current genetic disorder treatment without worsening symptoms.

Spur is now running a Phase 3 trial (NCT07223944), involving 45 adults with Gaucher disease type 1, 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 and a Phase 1/2 trial (NCT07603050) in children ages 2 and older with Gaucher disease type 3.

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.

While gene therapies for Gaucher disease are still in early clinical studies, safe gene therapies are now approved by the U.S. Food and Drug Administration for a growing number of diseases, including genetic conditions, blood disorders, some cancers, and other serious disorders.

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