Gaucher disease treatment

There is currently no cure for Gaucher disease, but different therapies are
available which may help treat many of the major symptoms.1

The treatments described below have some limitations and are not suitable for everyone; for further information, please contact your doctor.

Enzyme replacement therapy (ERT)2,3
ERT was first approved for treatment of Gaucher disease in 1991.4 It is designed to
work by replacing the deficient enzyme, so the fatty substance glucocerebroside is removed by natural processes. ERT can be used to treat children and adults with Gaucher disease.2,3

Substrate reduction therapy (SRT)5,6
SRT was first approved for treatment of Gaucher disease in 2002.5 It is designed to work by reducing the amount of glucocerebroside in the body, so the enzyme has less work to do. SRT can be used to treat adults with Gaucher disease.5,6

Other treatments
Patients with Gaucher disease may also be given medicines that help manage their symptoms (e.g. pain killers).1 These do not treat Gaucher disease itself but may help reduce the impact it has on the body.1

HOW IS GAUCHER DISEASE INHERITED?

References

  1. Pastores GM, Hughes DA. Gaucher Disease. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle, Washington: University of Washington, Seattle; 1993–2018. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1269/; Accessed: August 2019.
  2. Velaglucerase alfa Summary of Product Characteristics.
  3. Imiglucerase Summary of Product Characteristics.
  4. US Food and Drug Administration (FDA). FDA Approved Drug Products: alglucerase. Available at: https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&ApplNo=020057; Accessed August 2019.
  5. Miglustat Summary of Product Characteristics.
  6. Eliglustat Summary of Product Characteristics.
Brian (Carer): "When I met Elaine she was fit, full of life … and then when we got to know each other she eventually turned around to me and said, amongst other things ‘Oh, by the way, I’ve got Gaucher disease’. It was like ‘What? Wait, what is Gaucher disease?."
Virginia (Patient): "My first Gaucher symptoms were an enlarged liver and spleen, low platelet levels and a slow growth and development."
Elaine (Patient): "By the age of about 4 or 5, I was showing the classic signs of Gaucher disease: a very pronounced tummy, very pale skin, my limbs were very thin and I would bruise very easily."
Ivana (Patient): "Doctors from my city hospital, they did not know what was happening. They hadn’t even heard of Gaucher disease."
Virginia (Patient): “It took a little bit over a year between my initial symptoms and my Gaucher diagnosis. I was eight years old when the symptoms first started.”
Virginia (Patient): “I find myself very fortunate to have been diagnosed at such an early age, and also being able to get my treatment right away. Because now I feel really healthy and live a full life.”
Virginia (Patient): “I think Gaucher disease as a whole has made my whole family more close together. We have connected in a way that, I don't know if other families do.”
Elaine (Patient): “It’s of great value having a brother to talk to that understands totally what I’m going though.”
Brian (Carer): “As a caregiver and a husband, I do what I think is natural and the right thing to do, which is just support, love, have fun and handle whatever comes along.”
Ivana (Patient): “The support from my family is the most important for me.”
Gustavo (Patient): “When I was diagnosed with Gaucher disease, I felt alone at the beginning. When a person is diagnosed with Gaucher disease I advise that they don’t feel alone because there are a lot of people with Gaucher.”
Play Video
Watch a brief video about the cause of Gaucher disease.
Play Video
In this video Gaucher disease patients discuss how they were diagnosed.
Play Video
What are Lysosomal Storage Disorders?
Play Video
Visit the Spotlight on Gaucher YouTube channel to view Gaucher disease informational videos and stories from patients and families.
How is Gaucher disease diagnosed?
Symptoms Infographic
Symptoms Infographic

The information on this website is intended only to provide knowledge of Gaucher disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice.

Focusonfabry.com is intended for an International and US audience and has been produced by Shire. The website has been developed in accordance with industry and legal standards to provide information for the general public about Hunter Syndrome health topics. Shire makes every reasonable effort to include accurate and current information. However, the information provided on the website is not exhaustive.

©2015 Shire

Gaucher Disease Doctor Discussion Guide
Download the Gaucher disease toolkit for helpful information and questions to discuss with your doctor.
Symptoms Infographic
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