Autoimmune and Autoinflammatory Genetics Study

Description

This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or buccal samples may be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, and a small number of subjects may undergo skin biopsy.

Conditions

VEXAS Syndome, Autoinflammatory Disease, Autoimmune Disease, Rheumatic Disease

Study Overview

Study Details

Study overview

This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or buccal samples may be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, and a small number of subjects may undergo skin biopsy.

Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes

Autoimmune and Autoinflammatory Genetics Study

Condition
VEXAS Syndome
Intervention / Treatment

-

Contacts and Locations

New York

NYC H+H/Bellevue, New York, New York, United States, 10016

New York

NYU Langone Health, New York, New York, United States, 10016

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Stated willingness to participate in study procedures (which at the very least includes providing a mail-in blood or saliva sample for genetic analysis);
  • * Regardless of sex assigned at birth, at least one month of age;
  • * A medical history that, in the expert opinion of the PI and study team, is consistent with the possibility of autoinflammatory disease or known diagnosis of an autoinflammatory disease, such as VEXAS syndrome; and
  • * Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.
  • * Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
  • * Regardless of sex assigned at birth, at least one month of age;
  • * Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;
  • * Likelihood, in the expert opinion of the PI and study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and
  • * Ability of the subject, parents (in the case of children), to understand and the willingness to sign a written informed consent document.
  • * Stated willingness to participate in study procedures for healthy volunteers;
  • * Regardless of sex assigned at birth, at least five years old, and not pregnant (by history of a missed menstrual period);
  • * Likelihood, in the expert opinion of the PI that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and
  • * Ability of the subject to understand and the willingness to sign a written informed consent document by a capacity assessment provided by the PI and study team.

Ages Eligible for Study

1 Month to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

NYU Langone Health,

David Beck, MD, PhD, PRINCIPAL_INVESTIGATOR, NYU Langone Health

Study Record Dates

2032-04-05