Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey
In this study, changes in lyso-Gb1 concentrations from DBS were reflective of responses to enzyme replacement therapy initiation or withdrawal in most patients. These findings confirm that the use of DBS samples for routine monitoring of lyso-Gb1 concentrations in patients with GD is feasible in real-world settings and may be useful to assess treatment response.
Authors
- Tama Dinur (ORCID: https://orcid.org/0000-0003-1866-5644)
- Patrick Deegan (ORCID: https://orcid.org/0000-0001-9427-9900)
- Ari Zimran
- Shoshana Revel‐Vilk (ORCID: https://orcid.org/0000-0001-9151-0337)
- Stephan vom Dahl (ORCID: https://orcid.org/0000-0003-0481-0601)
- Majdolen Istaiti (ORCID: https://orcid.org/0000-0001-7598-2828)
- Jaco Botha (ORCID: https://orcid.org/0000-0002-8889-9959)
- Pilar Giraldo (ORCID: https://orcid.org/0000-0002-8791-1901)
- Elena Lukina
Institutions
- Hebrew University of Jerusalem (IL)
- University of Cambridge (GB)
- Shaare Zedek Medical Center (IL)
- Takeda (Switzerland) (CH)
- Düsseldorf University Hospital (DE)
- National Medical Research Center for Hematology (RU)
- Centro de Investigación Biomédica en Red (ES)
- Instituto de Investigación Sanitaria Aragón (ES)
- Addenbrooke's Hospital (GB)
- Heinrich Heine University Düsseldorf (DE)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-01-29
- DOI
- https://doi.org/10.1186/s13023-024-03444-y
- Citations
- 5
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 5.82