Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

Nadia Belmatoug, Maja Di Rocco, Cristina Fraga, Pilar Giraldo, Derralynn Hughes, Elena Lukina, Pierre Maison-Blanche, Martin Merkel, Claus Niederau, Ursula Plӧckinger, Johan Richter, Thomas M Stulnig, Stephan Vom Dahl, Timothy M Cox

Research output: Contribution to journalReview articlepeer-review


PURPOSE: In Gaucher disease, diminished activity of the lysosomal enzyme, acid β-glucosidase, leads to accumulation of glucosylceramides and related substrates, primarily in the spleen, liver, and bone marrow. Eliglustat is an oral substrate reduction therapy approved in the European Union and the United States as a first-line treatment for adults with type 1 Gaucher disease who have compatible CYP2D6 metabolism phenotypes. A European Advisory Council of experts in Gaucher disease describes the characteristics of eliglustat that are distinct from enzyme augmentation therapy (the standard of care) and miglustat (the other approved substrate reduction therapy) and recommends investigations and monitoring for patients on eliglustat therapy within the context of current recommendations for Gaucher disease management.

RESULTS: Eliglustat is a selective, potent inhibitor of glucosylceramide synthase, the enzyme responsible for biosynthesis of glucosylceramides which accumulate in Gaucher disease. Extensive metabolism of eliglustat by CYP2D6, and, to a lesser extent, CYP3A of the cytochrome P450 pathway, necessitates careful consideration of the patient's CYP2D6 metaboliser status and use of concomitant medications which share metabolism by these pathways. Guidance on specific assessments and monitoring required for eliglustat therapy, including an algorithm to determine eligibility for eliglustat, are provided.

CONCLUSIONS: As a first-line therapy for type 1 Gaucher disease, eliglustat offers eligible patients a daily oral therapy alternative to biweekly infusions of enzyme therapy. Physicians will need to carefully assess individual Gaucher patients to determine their appropriateness for eliglustat therapy. The therapeutic response to eliglustat and use of concomitant medications will require long-term monitoring.

Original languageEnglish
Pages (from-to)25-32
Number of pages8
JournalEuropean Journal of Internal Medicine
Publication statusPublished - Jan 2017


  • Cytochrome P-450 CYP2D6
  • Drug Interactions
  • Enzyme Inhibitors
  • Enzyme Replacement Therapy
  • Europe
  • Gaucher Disease
  • Glucosyltransferases
  • Humans
  • Phenotype
  • Practice Guidelines as Topic
  • Pyrrolidines
  • Journal Article
  • Review


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