Gaucher disease type 1 at a glance
- Affects 1 in 44,000 people
- Caused by mutation in a single gene, known as GBA, which makes the protein glucocerebrosidase, or GCase
- Characterized by toxic buildup of glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph)
- Low platelet and hemoglobin counts, leading to easy bruising and bleeding
- Enlarged liver and spleen
- Bone pain, bone crises (severe episodes of pain caused by reduced blood flow to bones)
- Other bone problems such as avascular necrosis (death of bone tissue due to a lack of blood supply), osteoporosis, fractures, joint destruction and skeletal abnormalities
- The adjusted lifetime relative risk of Gaucher type 1 patients developing Parkinson's disease may be more than 20 times greater than the general population.
Delayed treatment of Gaucher disease results in shortened lifespan and reduced quality of life.
The standard of care for Gaucher disease type 1 is enzyme replacement therapy, or ERT.
ERT slows but does not halt the overall progression of disease. In individuals with Gaucher disease type 1, the body starts to break the GCase enzyme down immediately after administration of ERT, so people on ERT typically receive lifelong biweekly infusions.
Even on the standard of care, people with Gaucher disease type 1 have a shortened life expectancy and may experience debilitating symptoms that significantly reduce their quality of life.
At AVROBIO, we are developing a new approach that could halt or reverse Gaucher disease type 1 with a single dose.
Gaucher disease is most often caused by a defect in a single gene known as GBA.
The GBA mutation affects production of an enzyme called glucocerebrosidase (GCase).
When the GCase enzyme does not function properly, toxic amounts of the molecules glucosylceramide and glucosylsphingosine build up in the lysosomes, impairing cell function. This leads to the progressive symptoms of Gaucher disease.
There are three types of Gaucher disease. The most common, and the one on which AVROBIO is currently working, is called type 1.
Healthy people have two working copies of the gene that provides the instructional code for making the glucocerebrosidase enzyme.
When one of those copies is faulty, the individual is considered a “carrier” of Gaucher disease but will not develop it. When a carrier has a child, he or she has a 50/50 chance of passing the faulty gene to the child.
A child who inherits two faulty genes may develop Gaucher disease. Males and females are equally affected.
Gaucher Disease resources*
*These links are provided for informational purposes only. AVROBIO is not affiliated with any of these institutions and is not responsible for any of the content on their websites.
Learn about our clinical trial in Gaucher disease
AVROBIO is conducting a Phase 1/2 study to evaluate the safety and efficacy of our investigational gene therapy for individuals with type 1 Gaucher disease (AVRO-RD-02). The trial is actively recruiting in Canada and Australia. AVROBIO plans to open clinical sites in the U.S.