title: Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.
abstract: Gaucher disease (GD) may worsen during pregnancy, leading to the discussion of continuing treatment during pregnancy. We examined fetal outcomes of pregnancies reported in the Gaucher Outcome Survey, an international GD-specific registry established in 2010. A total of 453 pregnancies were reported. Most pregnancies (336/453, 74.2%) were in women who did not receive GD-specific treatment during pregnancy, while enzyme replacement therapy (ERT) was received during 117/453 (25.8%) pregnancies. No pregnancies exposed to substrate reduction therapy were reported. The percentage of normal outcomes (live birth delivered at term with no congenital abnormalities) was similar in untreated and treated pregnancies (92.9% vs. 91.4%). The percentage of spontaneous abortions in untreated pregnancies was 3.6% (95% CI, 1.9%- 6.2%) compared with 6.9% (95% CI, 3.0%-13.1%) in treated pregnancies (p=0.1866). In women who received velaglucerase alfa <1month prior to conception and/or during pregnancy, 34/36 (94.4%) pregnancies had normal outcomes and 2 (5.6%) ended in spontaneous abortion. Normal outcomes were observed in the 20 pregnancies with velaglucerase alfa exposure starting <1month prior to conception and continuing through all trimesters. These observations, in addition to information in the literature, suggest that continuation of ERT during pregnancy may be appropriate for GD patients.
authors.affiliation: Division of Neurogenetics, New York University School of Medicine, New York, NY, United States. Electronic address: heather.lau@nyumc.org.
authors.forename: Heather
authors.initials: H
authors.lastname: Lau
authors.affiliation: Referral Centre for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, Clichy, France. Electronic address: nadia.belmatoug@aphp.fr.
authors.forename: Nadia
authors.initials: N
authors.lastname: Belmatoug
authors.affiliation: Addenbrooke's Hospital, Cambridge, United Kingdom. Electronic address: patrick.deegan@addenbrookes.nhs.uk.
authors.forename: Patrick
authors.initials: P
authors.lastname: Deegan
authors.affiliation: LSD Unit and Center for Clinical Trials, O&O Alpan, LLC Fairfax, VA, United States. Electronic address: ogokeralpan@oandoalpan.com.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Goker-Alpan
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address: idadschwartz@gmail.com.
authors.forename: Ida Vanessa D
authors.initials: IVD
authors.lastname: Schwartz
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States. Electronic address: spshankar@ucdavis.edu.
authors.forename: Suma P
authors.initials: SP
authors.lastname: Shankar
authors.affiliation: Shire, Zug, Switzerland.
authors.forename: Zoya
authors.initials: Z
authors.lastname: Panahloo
authors.affiliation: Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address: azimran@gmail.com.
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000188:drug therapy* / Q000453:epidemiology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy* / Q000453:epidemiology; D011256:Pregnancy Outcome; D012042:Registries; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D005962:Glucosylceramidase; C550184:Velaglucerase alfa, human
keywords: Enzyme replacement therapy; Gaucher disease; Pregnancy; Velaglucerase alfa