Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

Behshad Charkhand; Morris H. Scantlebury; Aya Narita; Ari Zimran; Walla Al-Hertani

Molecular Genetics and Metabolism Reports (Sep 2019)

Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

Behshad Charkhand,
Morris H. Scantlebury,
Aya Narita,
Ari Zimran,
Walla Al-Hertani

Affiliations

Behshad Charkhand: Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
Morris H. Scantlebury: Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
Aya Narita: Institute of Neurological Science, Tottori University, Yonago, Japan
Ari Zimran: Shaare Zedek Medical Center, Hebrew University, Jerusalem, Israel
Walla Al-Hertani: Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Corresponding author at: Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.

Journal volume & issue: Vol. 20

Abstract

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Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination with ERT has been suggested to have potential as a promising therapy for patients with GD3. The purpose of this study is to assess the effect of Ambroxol on glucosylsphingosine (Lyso-Gb1) levels, and on the neurological morbidity, in two Canadian patients with GD3. Keywords: Ambroxol, Glucosylsphingosine, Gaucher, Ataxia, Epilepsy, Lyso-Gb1, Lyso-GL1

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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