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

Abstract

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.

• Authors: Behshad Charkhand, Morris H Scantlebury, Aya Narita, Ari Zimran, Walla Al-Hertani
• Journal: Molecular genetics and metabolism reports (Mol Genet Metab Rep) Vol. 20 Pg. 100476 (Sep 2019) ISSN: 2214-4269 [Print] United States
• PMID: 31467847 (Publication Type: Journal Article)