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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gaucher disease type 1


Other Names for this Disease

  • Acid beta-glucosidase deficiency
  • Gaucher disease, noncerebral juvenile
  • GBA DEFICIENCY
  • GD 1
  • Glucocerebrosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Gaucher disease type 1. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Alglucerase injection
Trade Name
(Manufacturer Name)
Ceredase
(Genzyme Corporation)
Indication
The FDA has approved this product to be used in this manner.
Long-term enzyme replacement therapy for children, adolescents and adult patients with a confirmed diagnosis of Type I Gaucher disease who exhibit signs and symptoms that are severe enough to result in one or more of the following conditions: a) moderate-
More Information about this product Drug Information Portal
Medline Plus Health Information

Generic Name Imiglucerase
Trade Name
(Manufacturer Name)
Cerezyme®
(Genzyme Corporation)
Indication
The FDA has approved this product to be used in this manner.
Enzyme replacement therapy in patients with type I Gaucher's disease.
More Information about this product Drug Information Portal
Medline Plus Health Information

Generic Name Taliglucerase alfa
Trade Name
(Manufacturer Name)
Elelyso For Injection
(Pfizer, Inc.)
Indication
The FDA has approved this product to be used in this manner.
Use as long-term enzyme replacement therapy in patients with Type 1 Gaucher disease
More Information about this product Drug Information Portal

Generic Name Miglustat
Trade Name
(Manufacturer Name)
Zavesca®
(Actelion Pharmaceuticals Ltd)
Indication
The FDA has approved this product to be used in this manner.
Treatment of mild to moderate Type I Gaucher disease in adults for whom enzyme replacement therapy is not a therapeutic option (e.g., due to constraints such as allergy, hypersensitivity, or poor venous access).
More Information about this product Drug Information Portal

Other Names for this Disease
  • Acid beta-glucosidase deficiency
  • Gaucher disease, noncerebral juvenile
  • GBA DEFICIENCY
  • GD 1
  • Glucocerebrosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.