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. 2019 May 17:20:100476.
doi: 10.1016/j.ymgmr.2019.100476. eCollection 2019 Sep.

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

Behshad Charkhand  1   2 , Morris H Scantlebury  1   2 , Aya Narita  3 , Ari Zimran  4 , Walla Al-Hertani  5   1   2   6
Affiliations

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

Behshad Charkhand et al. Mol Genet Metab Rep. .

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.

Keywords: Ambroxol; Ataxia; Epilepsy; Gaucher; Glucosylsphingosine; Lyso-GL1; Lyso-Gb1.

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Figures

Fig. 1
Fig. 1
Lyso-Gb1 concentration on dried blood spot in Patient 1 and Patient 2, before Ambroxol supplementation, and after Ambroxol supplementation.
See this image and copyright information in PMC

References

    1. Elstein D., Mellgard B., Dinh Q., Lan L., Qiu Y., Cozma C., Eichler S., Bottcher T., Zimran A. Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naive and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: data from phase 3 clinical trials. Mol. Genet. Metab. 2017;122:113–120. - PubMed
    1. Pastores G.M., Hughes D.A. Gaucher Disease. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Stephens K., Amemiya A., editors. GeneReviews((R)) (Seattle (WA)) 1993.
    1. Maegawa G.H., Tropak M.B., Buttner J.D. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J. Biol. Chem. 2009;284:23502–23516. - PMC - PubMed
    1. Luan Z., Li L., Higaki K. The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain and Development. 2013;35:317–322. - PubMed
    1. Ishay Y., Zimran A., Szer J., Dinur T., Ilan Y., Arkadir D. Combined beta-glucosylceramide and ambroxol hydrochloride in patients with Gaucher related Parkinson disease: from clinical observations to drug development. Blood Cells Mol. Dis. 2018;68:117–120. - PubMed

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