RECRUITING

Autoimmune and Autoinflammatory Genetics Study

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Conditions

VEXAS SyndomeAutoinflammatory DiseaseAutoimmune DiseaseRheumatic DiseaseVEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes

Quick Facts

Study Start:2022-04-15
Study Completion:2032-04-05
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06004349

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.

Ages Eligible for Study:1 Month
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Stated willingness to participate in study procedures (which at the very least includes providing a mail-in blood or saliva sample for genetic analysis);
  2. * Regardless of sex assigned at birth, at least one month of age;
  3. * 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
  4. * 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.
  5. * Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
  6. * Regardless of sex assigned at birth, at least one month of age;
  7. * Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;
  8. * 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
  9. * Ability of the subject, parents (in the case of children), to understand and the willingness to sign a written informed consent document.
  10. * Stated willingness to participate in study procedures for healthy volunteers;
  11. * Regardless of sex assigned at birth, at least five years old, and not pregnant (by history of a missed menstrual period);
  12. * 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
  13. * 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.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

David Beck, MD, PhD
CONTACT
646-501-7400
BeckClinic@nyulangone.org
Mei-Kay Wong, MS, MPH, CGC, CPH
CONTACT
212-263-0350
BeckClinic@nyulangone.org

Principal Investigator

David Beck, MD, PhD
PRINCIPAL_INVESTIGATOR
NYU Langone Health

Study Locations (Sites)

NYC H+H/Bellevue
New York, New York, 10016
United States
NYU Langone Health
New York, New York, 10016
United States

Collaborators and Investigators

Sponsor: NYU Langone Health

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-04-15
Study Completion Date2032-04-05

Study Record Updates

Study Start Date2022-04-15
Study Completion Date2032-04-05

Terms related to this study

Keywords Provided by Researchers

  • VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)

Additional Relevant MeSH Terms

  • VEXAS Syndome
  • Autoinflammatory Disease
  • Autoimmune Disease
  • Rheumatic Disease