Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEX Article Swipe
Vincent Jachiet
,
Olivier Kosmider
,
Maxime Beydon
,
Jérôme Hadjadj
,
Lin‐Pierre Zhao
,
Vincent Grobost
,
Valentin Lacombe
,
G. Le Guenno
,
Yann Nguyen
,
Jean Benoît Arlet
,
Jérémie Dion
,
Maël Heiblig
,
Alice Garnier
,
Maxime Samson
,
Achille Aouba
,
Sylvain Thépot
,
Sophie Dimicoli‐Salazar
,
F. Dutasta
,
Benoit Faucher
,
Estibaliz Lazaro
,
Véronique Morel
,
A. Néel
,
R. Outh
,
H. Bézanahary
,
Julien Rossignol
,
Anne‐Sophie Alary
,
Audrey Bidet
,
Pauline Blateau
,
Anne Bouvier
,
Guilaine Boursier
,
Matthieu Décamp
,
Benjamin Lebecque
,
Yannick Le Bris
,
Pierre Sujobert
,
Alice Marceau‐Renaut
,
Cédric Pastoret
,
David Rizzo
,
Nathalie Boiret‐Dupré
,
Lara Boucher
,
Stéphanie Dulucq
,
Franck Geneviève
,
Cassandra Jadeau
,
Pierre Lemaire
,
Romain Vazquez
,
Jean‐Baptiste Rieu
,
Olivier Fain
,
Sophie Georgin‐Lavialle
,
Lucie Rigolot
,
Lise Larcher
,
Pierre Hirsch
,
Benjamin Terrier
,
Pierre Fenaux
,
A. Mékinian
,
Thibault Comont
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1182/blood.2024028133
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1182/blood.2024028133
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe monogenic disorder caused by somatic mutations in ubiquitin-like modifier activating enzyme 1 (UBA1), characterized by inflammation, cytopenias, and frequent association with myelodysplastic neoplasms (MDS). Steroid dependence is common, and targeted therapies have demonstrated limited efficacy. Azacitidine (AZA), a hypomethylating agent used in MDS, has shown potential in VEXAS syndrome but data remain limited. This multicenter retrospective study assessed AZA efficacy and safety in 88 patients with genetically confirmed VEXAS syndrome from FRENVEX (French VEXAS study group), 80% meeting World Health Organization 2022 MDS criteria. Inflammatory response rates were 41% at 6 months and 54% at 12 months, regardless of MDS status. A total of 50 (61%) patients achieved inflammatory response, with 70% occurring at 6 months, suggesting a delayed median response. Among responders, relapse-free survival on AZA was 90% at 1 year and 85% at 5 years. Of the 12 responders who discontinued AZA, 9 relapsed after a median of 3.1 years (range, 0.4-5.6), with effective reexposure in 4 of 5 patients. Hematological responses included red blood cell transfusion independence in 65% and platelet improvement in 77% of patients. Molecular response, defined as a ≥25% reduction in UBA1 variant allele frequency (VAF), was observed in 65% of patients, all of whom achieved inflammatory and hematological responses; and VAF dropped to <2% in 43% of cases. Infections (34%) and cytopenias (36%) were common, particularly during the first 3 cycles. This study establishes AZA as an effective therapy for VEXAS syndrome, improving inflammation, cytopenias, and UBA1 clonal burden, warranting larger prospective trials.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1182/blood.2024028133
- https://ashpublications.org/blood/article-pdf/doi/10.1182/blood.2024028133/2375012/blood.2024028133.pdf
- OA Status
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- Cited By
- 12
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4410390378Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1182/blood.2024028133Digital Object Identifier
- Title
-
Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEXWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-05-15Full publication date if available
- Authors
-
Vincent Jachiet, Olivier Kosmider, Maxime Beydon, Jérôme Hadjadj, Lin‐Pierre Zhao, Vincent Grobost, Valentin Lacombe, G. Le Guenno, Yann Nguyen, Jean Benoît Arlet, Jérémie Dion, Maël Heiblig, Alice Garnier, Maxime Samson, Achille Aouba, Sylvain Thépot, Sophie Dimicoli‐Salazar, F. Dutasta, Benoit Faucher, Estibaliz Lazaro, Véronique Morel, A. Néel, R. Outh, H. Bézanahary, Julien Rossignol, Anne‐Sophie Alary, Audrey Bidet, Pauline Blateau, Anne Bouvier, Guilaine Boursier, Matthieu Décamp, Benjamin Lebecque, Yannick Le Bris, Pierre Sujobert, Alice Marceau‐Renaut, Cédric Pastoret, David Rizzo, Nathalie Boiret‐Dupré, Lara Boucher, Stéphanie Dulucq, Franck Geneviève, Cassandra Jadeau, Pierre Lemaire, Romain Vazquez, Jean‐Baptiste Rieu, Olivier Fain, Sophie Georgin‐Lavialle, Lucie Rigolot, Lise Larcher, Pierre Hirsch, Benjamin Terrier, Pierre Fenaux, A. Mékinian, Thibault ComontList of authors in order
- Landing page
-
https://doi.org/10.1182/blood.2024028133Publisher landing page
- PDF URL
-
https://ashpublications.org/blood/article-pdf/doi/10.1182/blood.2024028133/2375012/blood.2024028133.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
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bronzeOpen access status per OpenAlex
- OA URL
-
https://ashpublications.org/blood/article-pdf/doi/10.1182/blood.2024028133/2375012/blood.2024028133.pdfDirect OA link when available
- Concepts
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Medicine, Internal medicine, Myelodysplastic syndromes, Gastroenterology, Azacitidine, Retrospective cohort study, Immunology, Oncology, Bone marrow, Biology, DNA methylation, Gene, Gene expression, BiochemistryTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
12Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 12Per-year citation counts (last 5 years)
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.54% | 105 |
| abstract_inverted_index.65% | 183, 207 |
| abstract_inverted_index.70% | 123 |
| abstract_inverted_index.77% | 188 |
| abstract_inverted_index.80% | 88 |
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| abstract_inverted_index.90% | 140 |
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| abstract_inverted_index.VAF | 219 |
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| abstract_inverted_index.red | 177 |
| abstract_inverted_index.the | 150, 236 |
| abstract_inverted_index.was | 139, 204 |
| abstract_inverted_index.who | 153 |
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| abstract_inverted_index.data | 62 |
| abstract_inverted_index.from | 82 |
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| abstract_inverted_index.used | 52 |
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| abstract_inverted_index.whom | 212 |
| abstract_inverted_index.with | 32, 77, 122, 166 |
| abstract_inverted_index.year | 143 |
| abstract_inverted_index.(34%) | 228 |
| abstract_inverted_index.(36%) | 231 |
| abstract_inverted_index.(61%) | 117 |
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| abstract_inverted_index.first | 237 |
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| abstract_inverted_index.shown | 56 |
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| abstract_inverted_index.(MDS). | 35 |
| abstract_inverted_index.(VAF), | 203 |
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| abstract_inverted_index.enzyme | 22 |
| abstract_inverted_index.larger | 259 |
| abstract_inverted_index.median | 131, 160 |
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| abstract_inverted_index.remain | 63 |
| abstract_inverted_index.safety | 73 |
| abstract_inverted_index.severe | 11 |
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| abstract_inverted_index.≥25% | 196 |
| abstract_inverted_index.(French | 84 |
| abstract_inverted_index.(UBA1), | 24 |
| abstract_inverted_index.(range, | 164 |
| abstract_inverted_index.FRENVEX | 83 |
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| abstract_inverted_index.dropped | 220 |
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| abstract_inverted_index.meeting | 89 |
| abstract_inverted_index.months, | 108, 127 |
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| abstract_inverted_index.status. | 112 |
| abstract_inverted_index.therapy | 247 |
| abstract_inverted_index.trials. | 261 |
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| abstract_inverted_index.syndrome | 8, 60, 81 |
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| abstract_inverted_index.0.4-5.6), | 165 |
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| abstract_inverted_index.response, | 121, 192 |
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| abstract_inverted_index.responses | 175 |
| abstract_inverted_index.syndrome, | 250 |
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| abstract_inverted_index.cytopenias | 230 |
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