Patients and FamiliesUnderstanding Gaucher Disease

Gaucher disease at a glance

Gaucher disease is a rare genetic disorder resulting from a deficiency of the enzyme glucocerebrosidase, also known as GCase. It is caused by mutation in a single gene, known as GBA, which makes GCase. The deficiency of the enzyme causes a toxic accumulation of certain fatty substances such glucosylceramide (GlcCer) and glucosylsphingosine (lyso-GB1) in certain organs, including the spleen, liver and bone.

There are three subtypes of Gaucher disease.

Gaucher disease type 1

  • Affects one in 44,000 people, or around 95 percent of all Gaucher disease cases in western countries2
  • Occurs more frequently in people of Ashkenazi Jewish heritage, affecting one in 500 to one in 1,000 individuals in this population3

Gaucher disease type 2

  • Most severe form of Gaucher disease with an early onset, rapid progression and sever morbidity
  • Affects fewer than one in 100,000 newborn babies4
  • Associated with severe neurological (brain) involvement4
  • Symptoms develop by age three to six months4

Gaucher disease type 3

  • Affects one in 100,000 people5
  • More chronic progression compared to Gaucher disease type 2
  • Associated with severe neurologic symptoms
Gaucher disease symptoms

Gaucher disease type 1

  • Low platelet counts, leading to easy bruising and bleeding and low hemoglobin (anemia)
  • Enlarged liver and spleen
  • Fatigue
  • Chronic bone pain, bone crises (severe episodes of pain caused by reduced blood flow to bones), avascular necrosis (death of bone tissue due to a lack of blood supply), osteoporosis, fractures, joint destruction, and skeletal abnormalities
  • An adjusted lifetime relative risk of developing Parkinson’s disease that may be more than 20 times greater than the general population

Gaucher disease type 2

  • Seizures and spasticity (jerking movements)6
  • Poor ability to suck and swallow6
  • Enlarged liver and spleen6
  • Eye movement disorders (oculomotor signs)
  • Apnea
  • Failure to thrive

Gaucher disease type 3

  • Progressive encephalopathy, or neurological disease, which may include memory loss, intellectual disability, developmental delay and seizures7
  • Ophthalmic disorders, including ophthalmoplegia (eye muscle paralysis) and strabismus (cross-eyed)7
  • Pulmonary involvement
  • Systemic manifestations of symptoms common in Gaucher disease type 17
Treating Gaucher disease

The standard of care for Gaucher disease is enzyme replacement therapy, or ERT, requiring life-long infusions, often on a biweekly basis. Substrate reduction therapy, or SRT, is also available for patients with Gaucher disease type 1.

Although ERT and SRT have been shown to improve some of the symptoms of Gaucher disease affecting the body, neither of these treatments impact the neurologic symptoms of Gaucher disease.

Even on the standard of care, people with Gaucher disease have a shortened life expectancy9 and may experience debilitating symptoms that significantly reduce their quality of life. Gaucher disease type 2 is unusually fatal, typically causing death before two years of age.7

Learn more about how lysosomal disorders are treated.

At AVROBIO, we are developing a new approach with the goal of halting or preventing Gaucher disease with a single administration. This new approach is investigational only and has not been approved by any regulatory agency.

Learn about our investigational gene therapies.

Learn about our clinical trial in Gaucher disease type 1.

What causes Gaucher disease?

Gaucher disease is a rare genetic disorder resulting from a deficiency of the enzyme glucocerebrosidase, also known as GCase. It is caused by mutation in a single gene, known as GBA, which makes GCase. The deficiency of the enzyme causes a toxic accumulation of certain fatty substances such glucosylceramide (GlcCer) and glucosylsphingosine (lyso-GB1) in certain organs, including the spleen, liver and bone.

How is Gaucher disease inherited?

The general population without Gaucher disease has two copies of the GBA gene that provides the instructional code for making the GCase enzyme.

When one of those copies is a variant gene, 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 variant genes from their biological parents may develop Gaucher disease. Males and females are equally affected.

*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.

Learn more

References
  1. National Institutes of Health Genetic and Rare Diseases Information Center. Gaucher disease. https://rarediseases.info.nih.gov/diseases/8233/gaucher-disease. Accessed: October 26, 2020.
  2. Gaucher Disease. Gaucher Disease Type 1. https://www.gaucherdisease.org/about-gaucher-disease/what-is/type-1/. Accessed: November 06, 2020.
  3. Medline Plus. Gaucher disease. https://medlineplus.gov/genetics/condition/gaucher-disease/#synonyms. Accessed: October 28, 2020.
  4. Gauchers Association. Type 2. https://www.gaucher.org.uk/type_2. Accessed: November 6, 2020.
  5. National Institutes of Health Genetic and Rare Diseases Information Center. Gaucher disease type 3. https://rarediseases.info.nih.gov/diseases/2443/gaucher-disease-type-3. Accessed: October 26, 2020.
  6. National Gaucher Foundation. Gaucher disease types 2 and 3. https://www.gaucherdisease.org/about-gaucher-disease/what-is/type-2-3/. Accessed: November 6, 2020.
  7. National Institutes of Health Genetic and Rare Diseases Information Center. Gaucher disease type 3. https://rarediseases.info.nih.gov/diseases/2443/gaucher-disease-type-3. Accessed: October 26, 2020.
  8. US National Library of Medicine National Institutes of Health. Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981103/. Accessed November 6, 2020.
  9. US National Library of Medicine National Institutes of Health. Life expectancy in Gaucher disease type 1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743399/. Accessed November 6, 2020.

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