NIAID Centralized Sequencing Protocol
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| ClinicalTrials.gov Identifier: NCT03206099 |
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Recruitment Status :
Recruiting
First Posted : July 2, 2017
Last Update Posted : April 30, 2024
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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....
| Condition or disease |
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| Atopy Primary Immunodeficiency Autoimmunity Autoinflammation |
Show detailed description
| Study Type : | Observational |
| Estimated Enrollment : | 10000 participants |
| Observational Model: | Family-Based |
| Time Perspective: | Prospective |
| Official Title: | NIAID Centralized Sequencing Protocol |
| Actual Study Start Date : | July 31, 2017 |
| Estimated Primary Completion Date : | December 31, 2029 |
| Estimated Study Completion Date : | December 31, 2029 |
| Group/Cohort |
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Biological relatives
Biological relatives of probands, who may or may not also be co-enrolled on the proband's referring protocol.
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Healthy volunteers
Select internal controls
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Probands
Participants with a disease under investigation by another NIAID protocol on which they are enrolled, either at the NIH or CNHS.
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- Identifying novel genetic defects associated with immune disorders [ Time Frame: Upon analysis of genomic data ]Identifying novel genetic defects associated with immune disorders
- Identifying novel clinical phenotypes associated with established genetic defects [ Time Frame: Upon analysis of genomic data ]Identifying novel clinical phenotypes associated with established genetic defects
- Identifying established genetic disorders of the immune system [ Time Frame: Upon analysis of genomic data ]Identifying established genetic disorders of the immune system, as well as known genetic disorders outside of the immune system in some cases
- Evidence base for how to improve clinical genomic services on this protocol and related programs. [ Time Frame: 5.1.1. Enrollment/Baseline Report Comprehension Survey and Semi-Structured Phone Interviews ]Studies of the processes and outcomes of the clinical genomics and genetic counseling services performed under this protocol. These studies will use surveys, interviews, and other social and behavioral research methods to collect data from study participants about their perceptions, experiences, and attitudes related to their condition and participation in this protocol. The goal of these additional studies will be to improve the services provided under protocol 17-I-0122 and to generate an evidence base for other investigators conducting similar studies.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | 1 Day and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
- PARTICIPANT INCLUSION CRITERIA:
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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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03206099
| Contact: Morgan N Similuk | (301) 435-6691 | morgan.similuk@nih.gov |
| United States, District of Columbia | |
| Children's National Health System | Recruiting |
| Washington, District of Columbia, United States, 20010 | |
| Contact: Michael Keller, MD 202-476-5843 mkeller@childrensnational.org | |
| United States, Maryland | |
| National Institutes of Health Clinical Center | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 ccopr@nih.gov | |
| Principal Investigator: | Morgan N Similuk | National Institute of Allergy and Infectious Diseases (NIAID) |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
| Responsible Party: | National Institute of Allergy and Infectious Diseases (NIAID) |
| ClinicalTrials.gov Identifier: | NCT03206099 |
| Other Study ID Numbers: |
170122 17-I-0122 |
| First Posted: | July 2, 2017 Key Record Dates |
| Last Update Posted: | April 30, 2024 |
| Last Verified: | February 27, 2024 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | Undecided |
| Plan Description: | .The PI is on maternity leave and will discuss when they return |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Phenotyping Genetics Sequencing |
Inborn Errors of Immunity Genomics Natural History |
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Primary Immunodeficiency Diseases Immunologic Deficiency Syndromes Immune System Diseases Genetic Diseases, Inborn |