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VEXAS Biobank

Overview

About this study

The objective of this study is to develop a biorepository of venous peripheral blood samples to carry out future multi-omic research on patients with VEXAS syndrome.

An adult auto-inflammatory syndrome caused by somatic mutations in the bone marrow myeloid precursors in the bone marrow has been recently identified and described by the National Institutes of Health (NIH). This condition has been termed VEXAS syndrome – which stands for Vacuoles, E1 enzyme, X-linked, Auto-inflammatory, Somatic

 

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Critieria:

  • Suspicion for VEXAS syndrome based on the following being present.
  • Current or historical elevated inflammatory markers (ESR > 20 mm/hr and/or CRP > 10 mg/L).
  • PLUS at least one of the following inflammatory features present currently or historically:
    • Inflammatory arthritis;
    • Nasal or auricular chondritis;
    • Ocular inflammation (scleritis, episcleritis, uveitis);
    • Orbital / peri-orbital swelling/edema;
    • Cutaneous inflammation (inflammatory skin nodules, neutrophilic dermatosis, urticarial lesions, leukocytoclastic vasculitis);
    • Venous thromboembolism OR superficial thrombophlebitis;
    • Biopsy or radiographic confirmed evidence of vasculitis;
    • Inflammatory lung findings (multifocal ground glass opacity);
    • Recurrent fever, night sweats, unintentional weight loss.
  • PLUS at least one of the following hematologic parameters:
    • MCV > 95 fl;
    • Anemia (hemoglobin < 13.2 g/dl for male or < 11.6 g/dl for female);
    • Thrombocytopenia (platelets < 135 x 10^9/L for male or < 157 x 10^9/L for female);
    • Leukopenia (white blood cell count < 3.4 x 10^9/L);
    • Neutropenia (neutrophil count < 1.56 x 10^9/L).

Exclusion Criteria: 

  • Patients who are not able to provide informed consent.
  • Patients < 18 years of age.
  • Pregnancy.
  • Patients who do not meet the above listed inclusion criteria.

Eligibility last updated 1/18/22. Questions regarding updates should be directed to the study team contact.

 

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Matthew Koster, M.D.

Open for enrollment

Contact information:

Emily Oldham

(507) 538-7772

Oldham.Emily@mayo.edu

More information

Publications

Publications are currently not available

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