Publications about genetic testing for neurological disorders
  1. Rapid intravenous enzyme infusion

Rapid intravenous enzyme infusion

Ari Zimran, MD 1 Shoshana Revel-Vilk, MD MSc 1 Michal Becker Cohen, MSc 1 Gaya Chicco 1 Naama Arbel 2 Prof. Arndt Rolfs, MD 3, 4 Jeff Szer, MD 1, 5
1 Shaare Zedek Medical Center (SZMC), Jerusalem 2 Medison Pharma, Petach Tikva, Israel 3 CENTOGENE AG 4 University of Rostock 5 Royal Children’s Hospital Melbourne
July 10, 2018

In the latest issue of American Journal of Hematology, we have published results of a recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from academic and medical institutions in Germany, Israel and Australia, we tested effects of rapid intravenous infusion of velaglucerase-alfa and its effects in adult patients affected with type 1 Gaucher disease.

 


Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease.

Presented in part as an oral presentation at the 13th WORLD annual meeting, San Diego CA, February 15, 2017. Abstract included in the Congress issue of Molecular Genetic and Metabolism.

Am J Hematol. 2018 Jul 10. doi: 10.1002/ajh.25205. [Epub ahead of print]

Summary

Gaucher disease (GD) is a lysosomal storage disorder for which safe and effective intravenous enzyme replacement therapy (ERT) has been available for more than 25 years [1]. The safety of the several ERTs for GD has also afforded the possibility of home infusions, reported by patients to be less stressful than those received in the hospital setting [2]. ERT is usually a lifelong commitment to infusions, and many patients find the every-other-week (EOW) hourly infusions onerous, impacting aspects of their quality of life, including time taken off school/work.

Over the past two decades, we became aware of several anecdotal reports from patients who while responsible for their infusions at home, decreased the infusion duration from the standard 60 minutes to as little as 2 to 5 minutes without apparent untoward effect.

Previous experience with a rapid intravenous infusion of biological materials, in particular, monoclonal antibodies, have defined a variable potential for reactions. Ranging from mild local irritations at the access site, various inflammatory and immunological responses to lifethreatening hypersensitivities and anaphylactoid reactions. These reactions could conceivably occur too quickly for an effective response by a medical team, particularly in the home environment.

Even in patients previously exposed to a particular drug without a reaction when infused at a standard rate, such concern is never trivial. Thus, in designing a study protocol to assess the safety of reduction of infusion duration of an ERT, the decision was taken to employ velaglucerase alfa (Shire, Zug Switzerland); an agent with good safety and tolerability profiles established during clinical trials and in post-marketing surveillance [3, 4]. This investigatorinitiated study aimed to ascertain the safety of decreased infusion time of velaglucerase alfa from 60 to 10 minutes using a step-wise reduction in time and allowing for home infusions in the final phase.