This study is currently recruiting participants.
Number
17-I-0122
Sponsoring Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 days Max Age: N/A
Referral Letter Required
Yes
Population Exclusion(s)
None
Keywords
Phenotyping; Genetics; Sequencing; Inborn Errors of Immunity; Genomics; Natural History
Recruitment Keyword(s)
Condition(s)
Atopy; Primary Immunodeficiency; autoimmunity; Autoinflammation
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Mental Health
Genetic testing called "sequencing" helps researchers look at DNA. Genes are made of DNA and are the instructions for our bodies to function. We all have thousands of genes. DNA variants are differences in genes between two people. We all have lots of variants. Most are harmless and some cause differences like blue or brown eyes. A few variants can cause health problems.
Objective:
To understand the genetics of immune disorders various health conditions, as well as outcomes of clinical genomics and genetic counseling services performed under this protocol.
Eligibility:
Participants in other NIH human subjects research protocols - either at the NIH Clinical Center (CC) or at Children s National Health System (CNHS) - (aged 0-99 years), and, in select cases, their biological relatives
Design:
Researchers will study participant s DNA extracted from blood, saliva, or another tissue sample, including previously collected samples we may have stored at the NIH. Researchers will look at participant s DNA in great detail. We are looking for differences in the DNA sequence or structure between participants and other people.
Participants will receive results that:
-Are important to their health
-Have been confirmed in a clinical lab
-Suggest that they could be at risk for serious disease that may affect your current or future medical management.
Some genetic information we return to participants may be of uncertain importance.
If genetic test results are unrelated to the participant s NIH evaluations, then we will not typically report:
-Normal variants
-Information about progressive, fatal conditions that have no effective treatment
-Carrier status (conditions you don t have but could pass on)
The samples and data will be saved for future research.
Personal data will be kept as private as possible.
If future studies need new information, participants may be contacted.
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PARTICIPANT INCLUSION CRITERIA: -Must fulfill one of the following criteria: --Proband participants: must have a disease under investigation by another NIH protocol on which they are co-enrolled, or are referred from the GDMCC protocol Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults (NCT04702243). --Biological relatives: biologically related to a proband participant, and does not have a disease under investigation in another NIH protocol. --Healthy volunteers: unrelated to a proband participant, and does not have a disease under investigation in another NIH protocol. -Aged 0-99 years. -Participants must be willing to undergo genetic testing. -Participants must be willing to allow samples to be stored for future research. -Participants must be willing to have their de-identified genomic data shared, for example in a controlled access databases like the Database of Genotypes and Phenotypes (dbGaP). -To complete surveys and interviews: --Proficient with the English language. --Able to provide informed consent. -Adult healthy volunteers must be able to provide informed consent. PARTICIPANT EXCLUSION CRITERIA: Any condition that, in the opinion of the investigator, contraindicates participation in this study is a reason for exclusion.
-Must fulfill one of the following criteria:
--Proband participants: must have a disease under investigation by another NIH protocol on which they are co-enrolled, or are referred from the GDMCC protocol Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults (NCT04702243).
--Biological relatives: biologically related to a proband participant, and does not have a disease under investigation in another NIH protocol.
--Healthy volunteers: unrelated to a proband participant, and does not have a disease under investigation in another NIH protocol.
-Aged 0-99 years.
-Participants must be willing to undergo genetic testing.
-Participants must be willing to allow samples to be stored for future research.
-Participants must be willing to have their de-identified genomic data shared, for example in a controlled access databases like the Database of Genotypes and Phenotypes (dbGaP).
-To complete surveys and interviews:
--Proficient with the English language.
--Able to provide informed consent.
-Adult healthy volunteers must be able to provide informed consent.
PARTICIPANT EXCLUSION CRITERIA:
Any condition that, in the opinion of the investigator, contraindicates participation in this study is a reason for exclusion.
Principal Investigator
Referral Contact
For more information: