Immune Disorders Clinical Trial
Official title:
NIAID Clinical Center Genomics Opportunity Protocol
Verified date | March 2023 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
Background: - There are many types of immune disorders. These range from rare immune deficiencies to allergies to autoimmune disease like rheumatoid arthritis. Genes are the instructions our body uses to work and develop. A new technology called whole exome sequencing may help find the cause of these disorders. Whole exome sequencing is a way to look at many genes at once for errors. Researchers hope to find new gene changes that lead to immune disorders. Additionally, researchers are interested in finding the best way to manage unexpected but important findings by whole exome sequencing. Objectives: - To better understand genetic causes of immune system disorders. Also, to better understand people s thoughts and feelings about immune system disorders and new genomic testing. Eligibility: - People ages 0 100 with an immune disorder or a relative with an immune disorder. People must be at least 2 to be evaluated at the NIH clinical center. People must be at least 12 to do the survey/interview portion of the study. Design: - Participants will have their genes sequenced. They may be asked for a new sample of blood. - If participants cannot come for a study visit, they can have a blood sample collected by their local lab or doctor and sent by mail. - Researchers may or may not find the cause of the participant s immune disorder. Participants will learn that information. Some participants may be asked to return to NIH to get results and have more tests. - Researchers may share information with other studies. The data will be anonymous. - For the survey part of the study, participants will answer questions about their or their relative s immune disorder. They will also answer about their thoughts and feelings about genomic testing. - Some participants will be asked for a brief interview to ask more about the survey topics. There may be more follow-up after several months.
Status | Completed |
Enrollment | 139 |
Est. completion date | January 22, 2019 |
Est. primary completion date | January 22, 2019 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | - INCLUSION CRITERIA: Whole Exome Sequencing with Secondary Findings Disclosure The following inclusion criteria apply to all research participants on this protocol: 1. Age 0-100 years old. Clinical evaluation at the NIHCC requires age >2 years. Affected relatives <2 years of age may be included in genetic family studies despite the fact that he/she is too young for evaluation at the clinical center. Including affected relatives in family-based whole exome sequencing is critically important, even if the study team has to rely only on medical records because NIHCC evaluation is not permitted due to age. 2. Willingness to allow sharing of genetic information in shared controlled access databases like dbGaP. 3. Willingness to receive secondary finding report. Probands (i.e., affected individuals serving as the starting point for genetic study of a family) must have: 1. Primary enrollment on a NIH Institutional Review Board (IRB) approved protocol (e.g., 05-I-0213 or 93-I-0063), which will execute the majority of clinical and research evaluations. 2. A suspected genetic basis for the presenting immune disorder with features including but not limited to autoimmunity, autoinflammatory conditions, lymphadenopathy, end-organ dysfunction, unusual infections, allergies, or laboratory abnormalities consistent with immune dysregulation that has not been previously identified and/or with a family history suggesting genetically-based immune dysfunction (e.g., similar phenotypes among relatives and/or consanguinity). EXCLUSION CRITERIA: Any participant can be excluded for the following: 1. Any condition which in the opinion of the investigator may interfere with the research that is the focus of this protocol. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Institute of Allergy and Infectious Diseases (NIAID) |
United States,
Similuk MN, Yan J, Setzer MR, Jamal L, Littel P, Lenardo M, Su HC. Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict. J Genet Couns. 2021 Jun;30(3):766-773. doi: 10.1002/jgc4.1367. Epub 2020 Dec 15. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | To discover genes contributing to selected immunemediated disorders | determination of discrete genotypephenotype association for selected immune-mediated disorders | 6 - 8 months after blood analysis | |
Secondary | Secondary Findings -To generate experience with secondary finding disclosure among NIAID genomic researchers and further assess the perceptions and preferences among NIAID study participants for WES including secondary finding analysis and discl... | to better understand participants WES-related perceptions and preferences, including secondary finding analysis and disclosure in order to inform future practice. | 6 - 8 months after blood analysis |