Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine (FIND-VEXAS)
FIND-VEXAS Project (Friuli Internal Medicine Network for Detection of VEXAS Syndrome): Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine
The FIND-VEXAS project is a multicenter, cross-sectional observational study conducted in Internal Medicine departments in the Friuli Venezia Giulia region of Italy.
The study aims to estimate how frequently VEXAS syndrome occurs among adults older than 50 years who are admitted to Internal Medicine units with otherwise unexplained systemic inflammation or hematologic abnormalities, such as fever, elevated inflammatory markers, macrocytic anemia, thrombocytopenia, or other cytopenias.
Participants will be assessed using clinical information, physical examination findings, routine laboratory tests, and imaging data. Patients with findings suggestive of VEXAS syndrome will be selected for confirmatory genetic testing of the UBA1 gene using blood or bone marrow samples.
In addition to estimating the prevalence of genetically confirmed VEXAS syndrome, the study will describe the clinical manifestations, hematologic abnormalities, inflammatory profile, and organ involvement of patients with suspected or confirmed disease.
調査の概要
詳細な説明
VEXAS syndrome is an adult-onset autoinflammatory disease caused by acquired somatic mutations in the UBA1 gene. The condition is characterized by systemic inflammation, cytopenias, and multiorgan involvement, which may affect the skin, lungs, joints, cartilage, and blood vessels. VEXAS syndrome may also overlap with hematologic disorders, including myelodysplastic syndromes.
The disorder mainly affects men older than 50 years, a population frequently admitted to Internal Medicine departments. Patients with VEXAS syndrome may initially present with nonspecific findings such as unexplained fever, persistently elevated C-reactive protein or erythrocyte sedimentation rate, macrocytic anemia, thrombocytopenia, other cytopenias, or systemic inflammation without an identifiable infectious, neoplastic, or other clear cause.
The FIND-VEXAS project is a multicenter, cross-sectional observational study involving Internal Medicine departments affiliated with the FADOI Friuli Venezia Giulia network. The planned study duration is 24 months. Eligible participants will be adults older than 50 years who are admitted with unexplained inflammatory and hematologic abnormalities.
Participating centers will use routinely available clinical, laboratory, and imaging information to identify patients with features suggestive of VEXAS syndrome. The assessment may include medical history, physical examination, standard blood tests, and radiological examinations performed as part of routine clinical care. A structured screening pathway will be used to support diagnostic suspicion and identify patients who should undergo molecular confirmation.
Blood or bone marrow samples from patients with suspected VEXAS syndrome will be sent to the Immunology Laboratory at IRCCS Burlo Garofolo in Trieste, which will act as the regional reference center for UBA1 sequencing. Suspected cases identified across participating Internal Medicine departments will therefore be centralized for genetic confirmation.
The primary objective is to estimate the prevalence of genetically confirmed VEXAS syndrome in the Internal Medicine setting. Additional objectives are to describe the clinical presentation, hematologic features, inflammatory profile, and patterns of organ involvement among patients with suspected or genetically confirmed VEXAS syndrome.
The study is expected to improve recognition of VEXAS syndrome through clinically applicable screening criteria and to strengthen collaboration between Internal Medicine departments and specialized Immunology and Hematology laboratories.
研究の種類
入学 (推定)
連絡先と場所
研究連絡先
- 名前：Giacomo Emmi, MD, PhD
- 電話番号：+393286852815
- メール：giacomo.emmi@chuv.ch
研究連絡先のバックアップ
- 名前：Maria Letizia Urban, MD, PhD
- 電話番号：+393478732241
- メール：marialetizia.urban@units.it
参加基準
適格基準
就学可能な年齢
- 大人
- 高齢者
健康ボランティアの受け入れ
サンプリング方法
調査対象母集団
説明
Inclusion Criteria:
- Age older than 50 years.
- Admission to a participating Internal Medicine department within the FADOI Friuli Venezia Giulia network.
- Presence of otherwise unexplained systemic inflammation and/or hematologic abnormalities.
- At least one of the following clinical or laboratory findings:
- unexplained fever;
- elevated C-reactive protein and/or erythrocyte sedimentation rate;
- macrocytic anemia;
- thrombocytopenia or other cytopenias;
- systemic inflammatory manifestations without a clearly identified cause.
- Availability of clinical, laboratory, and imaging data required for assessment according to the study screening pathway.
- Provision of informed consent, where required by the approved study protocol and applicable regulations.
Exclusion Criteria:
- Systemic inflammation adequately explained by an active infection.
- Systemic inflammation adequately explained by a solid malignancy.
- Clinical or laboratory abnormalities with another clearly established etiology.
- Insufficient clinical or laboratory information to assess eligibility according to the study screening pathway.
- Inability or refusal to provide informed consent, where consent is required.
研究計画
研究はどのように設計されていますか？
デザインの詳細
コホートと介入
グループ/コホート |
介入・治療 |
|---|---|
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Patients With Suspected VEXAS Syndrome
Adults older than 50 years admitted to participating Internal Medicine departments with otherwise unexplained systemic inflammation and hematologic abnormalities, including fever, elevated inflammatory markers, macrocytic anemia, thrombocytopenia, or other cytopenias.
Participants will be assessed using routinely available clinical, laboratory, and imaging data.
Patients meeting the predefined criteria for suspected VEXAS syndrome will undergo molecular testing for UBA1 mutations
|
Blood or bone marrow samples from participants with clinical features suggestive of VEXAS syndrome will be analyzed for somatic mutations in the UBA1 gene.
Molecular testing will be performed centrally at the Immunology Laboratory of IRCCS Burlo Garofolo in Trieste.
他の名前：
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この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Prevalence of Genetically Confirmed VEXAS Syndrome
時間枠：Through study completion, up to 24 months
|
Proportion of enrolled participants with a somatic pathogenic mutation in the UBA1 gene confirming the diagnosis of VEXAS syndrome.
Prevalence will be calculated as the number of genetically confirmed VEXAS cases divided by the total number of participants included in the study and evaluated according to the study screening pathway.
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Through study completion, up to 24 months
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二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Clinical Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome
時間枠：At study inclusion
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Frequency and distribution of clinical manifestations among participants with suspected or genetically confirmed VEXAS syndrome, including fever and involvement of the skin, lungs, joints, cartilage, and blood vessels.
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At study inclusion
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Hematologic Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome
時間枠：At study inclusion
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Frequency and distribution of hematologic abnormalities, including macrocytic anemia, thrombocytopenia, other cytopenias, and associated hematologic disorders such as myelodysplastic syndrome.
|
At study inclusion
|
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Inflammatory Profile of Participants With Suspected or Genetically Confirmed VEXAS Syndrome
時間枠：At study inclusion
|
Description of inflammatory laboratory findings, including C-reactive protein and erythrocyte sedimentation rate values, in participants with suspected or genetically confirmed VEXAS syndrome.
|
At study inclusion
|
協力者と研究者
捜査官
- 主任研究者：Giacomo Emmi, MD, PhD、CHUV Service d'immunologie et allergie, Lausanne, Switzerland
- スタディチェア：Francesco Zaja、University of Trieste
- スタディチェア：Fabio Fiammengo、FADOI-Friuli Venezia Giulia Network)
- スタディチェア：Alberto Tommasini、IRCCS Burlo Garofolo
- スタディチェア：Maria Letizia Urban、University of Trieste
研究記録日
主要日程の研究
研究開始 (推定)
一次修了 (推定)
研究の完了 (推定)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (実際)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
個々の参加者データ (IPD) の計画
個々の参加者データ (IPD) を共有する予定はありますか?
IPD プランの説明
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
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