No approved-drug candidate for human hoxa1 syndromes is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
The abstracts provided do not address human HOXA1 syndromes. They concern VEXAS syndrome, a separate condition caused by UBA1 mutations, and one paper on HOXA-AS2 in non-small cell lung cancer. No drug, trial, or outcome data for HOXA1 syndromes appear in these texts.
For VEXAS syndrome, a retrospective study of 88 patients treated with azacitidine reported inflammatory response rates of 41% at 6 months and 54% at 12 months. Among 50 patients who achieved an inflammatory response, relapse-free survival on azacitidine was 90% at 1 year and 85% at 5 years. Of 12 responders who stopped azacitidine, 9 relapsed after a median of 3.1 years. Haematological responses included red blood cell transfusion independence in 65% and platelet improvement in 77% of patients. A molecular response, defined as a 25% or greater reduction in UBA1 variant allele frequency, occurred in 65% of patients, and the variant allele frequency dropped below 2% in 43% of cases. Infections occurred in 34% and cytopenias in 36% of patients, especially during the first three cycles. The authors note that data remain limited and call for larger prospective trials.
Earlier case reports and reviews describe VEXAS as a refractory condition with inconsistent responses to existing treatments and no established guidelines. The 2022 Australian case series of three patients emphasises the need for new therapeutic options. The 2024 review states that current therapeutic approaches are based on limited evidence and their effectiveness remains inconsistent.
For human HOXA1 syndromes specifically, no clinical trial data, drug efficacy results, or treatment recommendations are available in these abstracts. What is missing is any dedicated funding for HOXA1 syndrome research, a prospective trial design, and patient stratification by genotype or phenotype.
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Internal Medicine Journal · 2022 · 43 citations
VEXAS syndrome: lessons learnt from an early Australian case series
AbstractVEXAS is a newly recognised adult-onset autoinflammatory syndrome resulting from a somatic mutation in the UBA1 gene. Herein, we present three cases of VEXAS syndrome in Sydney, Australia, that capture key clinical features and the refractory nature of the condition. They highlight the importance of multidisciplinary collaboration for early diagnosis and the need for new therapeutic options.
https://doi.org/10.1111/imj.15742Blood · 2025 · 34 citations · open access
Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEX
AbstractABSTRACT: 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.
https://doi.org/10.1182/blood.2024028133PubMed · 2019 · 16 citations
Long noncoding RNA HOXA-AS2 promotes cell migration and invasion via upregulating IGF-2 in non-small cell lung cancer as an oncogene.
AbstractOBJECTIVE: Recent studies have revealed the vital role of long non-coding RNAs (lncRNAs) in tumor progression. This study aims to determine whether lncRNA HOXA-AS2 functions in the metastasis of non-small cell lung cancer (NSCLC). PATIENTS AND METHODS: Quantitative Real Time-Polymerase Chain Reaction (QRT-PCR) was conducted to detect HOXA-AS2 expression in NSCLC tissues. Wound healing assay and transwell assay were performed to evaluate the function of HOXA-AS2 in mediating the behaviors of NSCLC cells. Furthermore, the interaction between IGF2 and HOXA-AS2 in mediating the metastasis of NSCLC was analyzed. RESULTS: By comparing with the expression level in adjacent tissues, HOXA-AS2 expression was higher in NSCLC samples. Moreover, HOXA-AS2 knockdown inhibited invasion and migration of NSCLC cells and, conversely, HOXA-AS2 overexpression obtained the opposite results. In addition, the mRNA and protein expressions of IGF2 were downregulated via HOXA-AS2 knockdown. Besides, the expression of IGF2 was positively correlated to the expression of HOXA-AS2 in NSCLC tissues. CONCLUSIONS: In this work, HOXA-AS2 could enhance migratory and invasive abilities of NSCLC cells by upregulating IGF2, which might offer a potential therapeutic target for NSCLC.
https://doi.org/10.26355/eurrev_201906_18064Journal of Clinical Medicine · 2024 · 14 citations · open access
VEXAS Syndrome: A Comprehensive Review of Current Therapeutic Strategies and Emerging Treatments
AbstractVEXAS syndrome is a recently identified autoinflammatory disorder resulting from somatic mutations in the UBA1 gene, leading to a complex spectrum of severe inflammatory and hematologic manifestations. The absence of established treatment guidelines and the variability in clinical presentation make its management particularly challenging. Current therapeutic approaches are often based on limited evidence, and their effectiveness remains inconsistent. This review seeks to consolidate the existing knowledge on therapeutic strategies for VEXAS syndrome, offering a critical evaluation of their efficacy and addressing the gaps in the current literature. As the clinical recognition of VEXAS grows, there is an urgent need to explore more targeted, effective treatments that can address both the inflammatory and hematologic aspects of the disease. By providing a comprehensive analysis of the current therapeutic landscape, this review aims to guide clinicians and researchers toward developing more effective, long-term management strategies for this life-threatening condition.
https://doi.org/10.3390/jcm13226970Clinical Nuclear Medicine · 2022 · 10 citations
A “Leopard Man” Aspect on 18F-FDG PET/CT Revealing a VEXAS Syndrome
AbstractABSTRACT: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset autoinflammatory disease caused by somatic UBA1 mutations first described in 2020. Most of these patients met clinical criteria for an inflammatory syndrome (relapsing polychondritis, Sweet syndrome, polyarteritis nodosa, or giant-cell arteritis) or a hematologic condition (myelodysplastic syndrome or multiple myeloma) or both. We described here an FDG PET/CT "leopard man" appearance, with abnormal marrow recruitment the findings, in a 70-year-old man diagnosed with a VEXAS syndrome.
https://doi.org/10.1097/rlu.0000000000004443British Journal of Haematology · 2026 · 4 citations · open access
Hypomethylating agents in vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review
AbstractVEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an X-linked, systemic, haemato-inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms, reverse cytopenia, enable weaning of the corticosteroids and, in some cases, induce molecular remission. We systematically reviewed the literature to evaluate the experience with HMA in the management of VEXAS, following 2020 PRISMA guidelines across three databases. A total of 30 citations reporting 166 patients with genetically confirmed VEXAS syndrome treated with HMA were included. All but three patients were males (98%), and the median age was 71 years (range, 29-86). Inflammatory symptoms (96% of patients), constitutional symptoms (84%) and cytopenia (89%) were most frequently reported, and 81% had a concomitant diagnosis of myelodysplastic syndromes (MDS). Most mutations were substitutions of p.Met41 (81%). Overall inflammatory response was achieved in 59% of treated patients with most complete response (52%). Responses were documented in patients with and without concomitant MDS. Any haematological response was achieved in 74% of the patients, and eradication of the UBA1 clone (to a variant allele fraction of <2%) was detected in 51% of cases in whom mutation testing was performed (n = 32/63). Toxicity was the most frequent reason for discontinuation of therapy. This review highlights HMAs as a feasible option in the management of VEXAS syndrome. Prospective studies are needed to identify predictors for response or resistance and optimal regimens.
https://doi.org/10.1111/bjh.70302Lara D. Veeken · 2024 · 4 citations
Trismus as a new feature of VEXAS syndrome
AbstractJournal Article Accepted manuscript Trismus as a new feature of VEXAS syndrome Get access Alexis Archambeaud, Alexis Archambeaud Department of Internal Medicine, CHU Tours, France Dr AUDEMARD-VERGER Alexandra, MD-PhD, Department of Internal Medicine and Clinical Immunology, CHRU Tours, Tours, France, University of Tours, Tours, France. Email: [email protected] https://orcid.org/0000-0002-0226-5016 Search for other works by this author on: Oxford Academic PubMed Google Scholar Claire Le Dreau, Claire Le Dreau Department of Internal Medicine, CHU Tours, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Adrien Bigot, Adrien Bigot Department of Internal Medicine, CHU Tours, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Olivier Kosmider, Olivier Kosmider Department of Haematology, CHU Cochin, FranceUniversity of Paris Cité, Paris, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Assia Taleb, Assia Taleb Department of Haematology, CHU Cochin, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Lara Boucher, Lara Boucher Department of Haematology, CHU Cochin, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Marie Temple, Marie Temple Department of Haematology, CHU Cochin, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Jean-Philippe Cottier, Jean-Philippe Cottier Department of Radiology, CHU Tours, FranceUniversity of Tours, Tours, France Search for other works by this author on: Oxford Academic PubMed Google Scholar François Maillot, François Maillot Department of Internal Medicine, CHU Tours, FranceUniversity of Tours, Tours, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Alexandra Audemard-Verger Alexandra Audemard-Verger Department of Internal Medicine, CHU Tours, FranceUniversity of Tours, Tours, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Rheumatology, keae135, https://doi.org/10.1093/rheumatology/keae135 Published: 06 March 2024 Article history Received: 16 November 2023 Revision received: 16 February 2024 Accepted: 26 February 2024 Published: 06 March 2024
https://doi.org/10.1093/rheumatology/keae135Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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