Yao Syndrome for Clinical Translational Research

Overview

About this study

The purpose of this study is to facilitate clinical translational studies of patients with a recently described autoinflammatory syndrome, called Yao syndrome. Our major goals are to enroll patients who meet diagnostic criteria for Yao syndrome, document their clinical features, estimate disease activity, record current and previous treatments, and collect biospecimens for future translational research projects. We will accomplish these goals by conducting a cross-sectional study of a sample of patients with Yao syndrome from a single academic rheumatology center by virtual study visit.

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 Criteria:

Major

Periodic occurrence ≥ twice.
Recurrent fever or dermatitis or both.

Minor

Polyarthralgia/inflammatory arthritis or distal extremity swelling.
Abdominal pain or diarrhea or both.
Sicca-like symptoms.
Pericarditis or pleuritis or both.

Molecular Criterion

NOD2 IVS8+158 or R702W or both, or other rare variants.

Exclusion Criteria:

High titer antinuclear antibodies, inflammatory bowel disease, Blau syndrome, adult sarcoidosis, primary Sjögren syndrome, or monogenic autoinflammatory diseases.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 3/04/2024. 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 John Davis, M.D.	Open for enrollment	Contact information: Emily Oldham (507) 293-1083 Oldham.Emily@mayo.edu

Mayo Clinic Location

Status

Contact

Rochester, Minn.

Mayo Clinic principal investigator

John Davis, M.D.

Open for enrollment

Contact information:

Emily Oldham

(507) 293-1083

Oldham.Emily@mayo.edu

More information

Publications

Publications are currently not available

Clinical Trials