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Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

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Date
2022-11
Authors
Gayed, Matthew M
Jung, Seung-Hye
Huggins, Erin
Rodriguez-Rassi, Eleanor
DeArmey, Stephanie
Kishnani, Priya Sunil
Stiles, Ashlee R
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Abstract
Historically, disease burden and treatment responses in patients with Gaucher disease (GD) was assessed by monitoring clinical data, laboratory, imaging, chitotriosidase (CHITO), and other biomarkers; however, these biomarkers lack specificity and CHITO is uninformative in patients heterozygous or homozygous for the CHIT1 c.1049_1072dup24 variant. Recently, glucosylsphingosine (lyso-Gb1), a sensitive and specific GD biomarker, has been recommended for patient monitoring. Furthermore, studies measuring lyso-Gb1 and CHITO in patients on long-term treatment with enzyme replacement therapy (ERT) and/or substrate reduction therapy (SRT) reported as group data show a reduction in both analytes, yet individualized patient data are generally unavailable. We describe seven patients on long-term treatment with longitudinal clinical data with monitoring based on current treatment guidelines. We present four patients who exhibit stable disease with normalized CHITO despite elevated lyso-Gb1. We present one patient who transitioned from ERT to SRT due to lack of a clinical response with life-threatening thrombocytopenia who responded with marked improvement in platelets, and normalized levels of both CHITO and lyso-Gb1. Finally, we present two ERT to SRT switch patients with stable disease on ERT who exhibited non-compliance on SRT, one with mirrored marked elevations of CHITO and lyso-Gb1; and another with normal CHITO and platelets, but increasing lyso-Gb1 levels and enlarged spleen. These clinical vignettes highlight the role of lyso-Gb1 as a sensitive biomarker in management of patients with GD, and its further value when CHITO is normal and thus uninformative. We highlight the personalized medicine approach needed to optimize treatment outcomes and recommendations for these patients.
Type
Journal article
Subject
Humans
Gaucher Disease
Psychosine
Enzyme Replacement Therapy
Biomarkers
Permalink
https://hdl.handle.net/10161/26419
Published Version (Please cite this version)
10.3390/ijms232314938
Publication Info
Gayed, Matthew M; Jung, Seung-Hye; Huggins, Erin; Rodriguez-Rassi, Eleanor; DeArmey, Stephanie; Kishnani, Priya Sunil; & Stiles, Ashlee R (2022). Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease. International journal of molecular sciences, 23(23). pp. 14938. 10.3390/ijms232314938. Retrieved from https://hdl.handle.net/10161/26419.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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Scholars@Duke

Kishnani

Priya Sunil Kishnani

Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An understanding of the natural history and delineation of long term complications of genetic disorders  with a special focus on liver Glycogen storage disorders, lysosomal disorders with a special focus on Pompe disease, Down syndrome and hypophosphatasia2) ) The development of new therapies such
Stiles

Ashlee R. Stiles

Associate Professor of Pediatrics
Dr. Stiles is a fellow of the American College of Medical Genetics and Genomics trained in clinical biochemical genetics and molecular genetics. She is co-director of the Duke University Health System Biochemical Genetics Laboratory and external Referral Laboratory. In her work with the Biochemical Genetics laboratory, her research interests focus on improving and developing laboratory diagnostics for rare inborn errors of metabolism. In her role as director of the Referral laboratory, she wo
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