NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

NIAID Centralized Sequencing Protocol

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

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)

None

Condition(s)

Atopy;
Primary Immunodeficiency;
autoimmunity;
Autoinflammation

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Mental Health

Background:

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.

--Back to Top--

Eligibility

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.

--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).

-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.

Co-enrollment guidelines:

Probands must be enrolled on another NIH - either at the NIH CC or CNHS - protocol as their primary protocol for carrying out clinical and research evaluations. Relatives of probands may be enrolled in this protocol whether or not the relatives are enrolled on another NIH protocol. However, we may prioritize enrolling relatives who are on other NIH protocols and have undergone careful phenotyping on those protocols. Careful phenotyping is important, even for participants who are apparently healthy. Because the primary research team is best suited to characterize their participants phenotypes, phenotyping of co-enrolled relatives will be performed on the primary protocols.

SUBSTUDY INCLUSION CRITERIA:

-Aged 14-99 years.

-English language proficiency.

-Ability to provide informed consent.

SUBSTUDY EXCLUSION CRITERIA:

-Have received positive genetic results from this protocol in the past.

-Any condition that, in the opinion of the investigator, contraindicates participation in this substudy.


--Back to Top--

Citations:

Not Provided

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Morgan N. Similuk
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 11C204
10 Center Drive
Bethesda, Maryland 20892
(301) 435-6691
morgan.similuk@nih.gov

Morgan N. Similuk
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 11C204
10 Center Drive
Bethesda, Maryland 20892
(301) 435-6691
morgan.similuk@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT03206099

--Back to Top--