Gene:
GBA
glucosidase, beta, acid

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB gathers information regarding PGx on FDA drug labels from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels", and from FDA-approved FDA and EMA-approved (European Medicines Agency) EMA labels brought to our attention. Excerpts from the label and downloadable highlighted label PDFs are manually curated by PharmGKB.

Please note that some drugs may have been removed from or added to the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" without our knowledge. We periodically check the table for additions to this table and update PharmGKB accordingly.

There is currently no such list for European drug labels - we are working with the EMA to establish a list of European Public Assessment Reports (EPAR)s that contain PGx information. We are constructing this list by initially searching for drugs for which we have PGx-containing FDA drug labels - of these 44 EMA EPARs were identified and are being curated for pgx information.

We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA or other Medicine Agencies around the world - please contact feedback.



last updated 01/15/2014

FDA Label for velaglucerase alfa and GBA

This label is on the FDA Biomarker List
Genetic testing required

Summary

Velaglucerase alfa (VPRIV) is indicated as a long-term enzyme replacement therapy for patients with type 1 Gaucher disease. Gaucher disease is caused by mutations in the GBA gene, resulting in a deficiency of the enzyme beta-glucocerebrosidase. Velaglucerase alfa has the same amino acid sequence as naturally occurring glucocerebrosidase.

Annotation

Excerpts from the velaglucerase alfra (VPRIV) drug label:

VPRIV is a hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy (ERT) for patients with type 1 Gaucher disease.

Velaglucerase alfa is a glycoprotein...[it] has the same amino acid sequence as the naturally occurring human enzyme, glucocerebrosidase.

Gaucher disease is an autosomal recessive disorder caused by mutations in the GBA gene, which results in a deficiency of the lysosomal enzyme beta-glucocerebrosidase.

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the velaglucerase alfa drug label.

*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • GBA
    • Indications & usage section, Description section, Clinical pharmacology section, other
    • source: FDA Label

last updated 08/06/2014

European Medicines Agency (EMA) Label for velaglucerase alfa and GBA

Genetic testing required

Summary

The EMA European Public Assessment Report (EPAR) for velaglucerase alfa (VPRIV) states that the drug is indicated as a long-term enzyme replacement therapy for patients with type 1 Gaucher disease. Gaucher disease is caused by mutations in the GBA gene, resulting in a deficiency of the lysosomal enzyme beta-glucocerebrosidase.

Annotation

Excerpt/s from the velaglucerase alfa (VPRIV) EPAR:

Gaucher disease is an autosomal recessive disorder caused by mutations in the GBA gene which results in a deficiency of the lysosomal enzyme beta-glucocerebrosidase. This enzymatic deficiency causes an accumulation of glucocerebroside primarily in macrophages, giving rise to foam cells or "Gaucher cells".


Velaglucerase alfa supplements or replaces beta-glucocerebrosidase, the enzyme that catalyzes the hydrolysis of glucocerebroside to glucose and ceramide in the lysosome, reducing the amount of accumulated glucocerebroside and correcting the pathophysiology of Gaucher disease. Velaglucerase alfa increases haemoglobin concentration and platelet counts and reduces liver and spleen volumes in patients with type 1 Gaucher disease.

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the velaglucerase alfa EMA drug label

*Disclaimer: The contents of this page have not been endorsed by the EMA and are the sole responsibility of PharmGKB.

Genes and/or phenotypes found in this label

  • Gaucher Disease
    • Indications & usage section, Information for patients section, Pharmacodynamics section, Pharmacokinetics section, Warnings and precautions section, efficacy
    • source: European Medicines Agency (EMA) Label
  • GBA
    • Pharmacodynamics section, efficacy
    • source: European Medicines Agency (EMA) Label

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  None
Alternate Symbols:  GBA1
PharmGKB Accession Id: PA28591

Details

Cytogenetic Location: chr1 : q22 - q22
GP mRNA Boundary: chr1 : 155204239 - 155214653
GP Gene Boundary: chr1 : 155201239 - 155224653
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available DL No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
velaglucerase alfa
No related diseases are available

Publications related to GBA: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. The New England journal of medicine. 2009. Sidransky E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood. 2003. Ross Mary E, et al. PubMed