FIND-VEXAS Project (Friuli Internal Medicine Network for Detection of VEXAS Syndrome): Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 50
- 主要终点
- Prevalence of Genetically Confirmed VEXAS Syndrome
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 50 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Prevalence of Genetically Confirmed VEXAS Syndrome
时间窗: 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.
次要结局
- Clinical Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome(At study inclusion)
- Hematologic Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome(At study inclusion)
- Inflammatory Profile of Participants With Suspected or Genetically Confirmed VEXAS Syndrome(At study inclusion)
研究者
Giacomo Emmi
Professor
Centre Hospitalier Universitaire Vaudois