Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18.

Abstract

Background: Agalsidase β is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low α-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and cerebrovascular events. In clinical trials, agalsidase β cleared glycolipid deposits from endothelial cells within 6 months; clearance from other cell types required sustained treatment. We hypothesised that there might be a 'lag time' to clinical benefit after initiating agalsidase β treatment, and analysed the incidence of severe clinical events over time in patients receiving agalsidase β.

Methods: The incidence of severe clinical events (renal failure, cardiac events, stroke, death) was studied in 1044 adult patients (641 men, 403 women) enrolled in the Fabry Registry who received agalsidase β (average dose 1 mg/kg every 2 weeks) for up to 5 years.

Results: The incidence of all severe clinical events was 111 per 1000 person-years (95% CI 84 to 145) during the first 6 months. After 6 months, the incidence decreased and remained stable within the range of 40-58 events per 1000 patient-years. The largest decrease in incidence rates was among male patients and those aged ≥40 years when agalsidase β was initiated.

Conclusions: Contrary to the expected increased incidence of severe clinical events with time, adult patients with Fabry disease had decreased incidence of severe clinical events after 6 months treatment with agalsidase β 1 mg/kg every 2 weeks.

Trial registration number: NCT00196742.

Keywords: Cardiovascular Medicine; Clinical genetics; Getting Research into Practice.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Enzyme Replacement Therapy / methods
  • Fabry Disease / drug therapy*
  • Fabry Disease / metabolism
  • Female
  • Glycolipids / metabolism
  • Humans
  • Incidence
  • Isoenzymes / therapeutic use*
  • Male
  • Middle Aged
  • Registries
  • Time-to-Treatment
  • Treatment Outcome
  • alpha-Galactosidase / metabolism
  • alpha-Galactosidase / therapeutic use*

Substances

  • Glycolipids
  • Isoenzymes
  • alpha-Galactosidase
  • agalsidase beta

Associated data

  • ClinicalTrials.gov/NCT00196742
  • ClinicalTrials.gov/NCT00196742