TY - JOUR
T1 - Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
AU - Balwani, Manisha
AU - Burrow, Thomas Andrew
AU - Charrow, Joel
AU - Goker-Alpan, Ozlem
AU - Kaplan, Paige
AU - Kishnani, Priya S.
AU - Mistry, Pramod
AU - Ruskin, Jeremy
AU - Weinreb, Neal
N1 - Funding Information:
Manisha Balwani has received honoraria and travel reimbursement from Genzyme, a Sanofi company, and is a member of the North American Advisory Board for the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Thomas Andrew Burrow has received research/grant support, honoraria, and/or travel reimbursement from Genzyme, a Sanofi Company, and BioMarin Pharmaceutical. He is a member of the North American Advisory Board for the ICGG Gaucher Registry. Joel Charrow has received honoraria for consultation and advisory board participation from Genzyme, a Sanofi company, Shire, Pfizer/Protalix, BioMarin, and Synageva. He has been an investigator in clinical trials sponsored by Genzyme, a Sanofi company, Shire, BioMarin, and Amicus. He has received honoraria for lectures from Genzyme, a Sanofi Company, the National Gaucher Foundation, the Fabry Support and Information Group, and the SIMD North American Metabolic Academy. He is a member of the North American Advisory Board for the ICGG Gaucher Registry. Ozlem Goker-Alpan has received honoraria and travel reimbursement from Genzyme, a Sanofi company. Paige Kaplan has received honoraria and/or grants from Genzyme, a Sanofi company, Pfizer and Synageva. She is a member of the North American and International Advisory Boards for the ICGG Gaucher Registry. Priya S. Kishnani has received honoraria from Genzyme, a Sanofi Company, Shire, Amicus, Roche and Synageva, and is a member of the North American Advisory Board for the ICGG Gaucher Registry. Pramod K. Mistry has received research/grant support, honoraria, and/or lecture fees from Genzyme, a Sanofi company, Shire, Pfizer, and Synageva. He is a member of the North American Advisory Board for the ICGG Gaucher Registry. Jeremy Ruskin has received honoraria for consultancy or participation on advisory boards for Genzyme, a Sanofi company. Neal Weinreb has received research support, consultation fees, honoraria and travel reimbursement for attending advisory boards or for speaking from Genzyme, a Sanofi Company, Shire HGT, and Pfizer Corporation. He is a member of the North American and International Advisory Boards for the ICCG Gaucher Registry.
Funding Information:
Genzyme, a Sanofi company, facilitated the meeting of eliglustat advisory board members to discuss and develop these recommendations and paid for editorial work on the manuscript. The authors thank Raymond Mankoski, MD, PhD, Jennifer Ibrahim, MD, and Lisa Underhill, MS of Genzyme for critical review of the manuscript, and Laurie LaRusso, MS, ELS of Chestnut Medical Communications for medical writing support funded by Genzyme . All authors are members of the Eliglustat Advisory Board for Genzyme.
PY - 2016/2/1
Y1 - 2016/2/1
N2 - In Gaucher disease, deficient activity of acid β-glucosidase results in accumulation of its substrates, glucosylceramide and glucosylsphingosine, within the lysosomes of cells primarily in the spleen, liver, bone marrow, and occasionally the lung. The multisystem disease is predominantly characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. Enzyme replacement therapy with recombinant human acid β-glucosidase has been the first-line therapy for Gaucher disease type 1 for more than two decades. Eliglustat, a novel oral substrate reduction therapy, was recently approved in the United States and the European Union as a first-line treatment for adults with Gaucher disease type 1. Eliglustat inhibits glucosylceramide synthase, thereby decreasing production of the substrate glucosylceramide and reducing its accumulation. Although existing recommendations for the care of patients with Gaucher disease remain in effect, unique characteristics of eliglustat require additional investigation and monitoring. A panel of physicians with expertise in Gaucher disease and experience with eliglustat in the clinical trials provide guidance regarding the use of eliglustat, including considerations before starting therapy and monitoring of patients on eliglustat therapy.
AB - In Gaucher disease, deficient activity of acid β-glucosidase results in accumulation of its substrates, glucosylceramide and glucosylsphingosine, within the lysosomes of cells primarily in the spleen, liver, bone marrow, and occasionally the lung. The multisystem disease is predominantly characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. Enzyme replacement therapy with recombinant human acid β-glucosidase has been the first-line therapy for Gaucher disease type 1 for more than two decades. Eliglustat, a novel oral substrate reduction therapy, was recently approved in the United States and the European Union as a first-line treatment for adults with Gaucher disease type 1. Eliglustat inhibits glucosylceramide synthase, thereby decreasing production of the substrate glucosylceramide and reducing its accumulation. Although existing recommendations for the care of patients with Gaucher disease remain in effect, unique characteristics of eliglustat require additional investigation and monitoring. A panel of physicians with expertise in Gaucher disease and experience with eliglustat in the clinical trials provide guidance regarding the use of eliglustat, including considerations before starting therapy and monitoring of patients on eliglustat therapy.
KW - Eliglustat
KW - Enzyme replacement therapy
KW - Gaucher disease type 1
KW - Substrate reduction therapy
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UR - http://www.scopus.com/inward/citedby.url?scp=84957850237&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2015.09.002
DO - 10.1016/j.ymgme.2015.09.002
M3 - Review article
C2 - 26387627
AN - SCOPUS:84957850237
VL - 117
SP - 95
EP - 103
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 2
ER -