AtopyNCT03206099
NIAID Centralized Sequencing Protocol
An observational study of Atopy and Primary Immunodeficiency, run by National Institute of Allergy and Infectious Diseases (NIAID) at 2 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 day to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Atopy, Primary Immunodeficiency, Autoimmunity
- How many people
- 20,000 participants
- Where
- 2 sitesUnited States
- Study dates
- 31 Jul 2017to 1 Jul 2042
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Probands and their biological relatives (primarily clinical), recruited from NIAID protocols (both at the NIH and CNHS).
Who may be able to join
- Must fulfill one of the following criteria:
- Proband participants: must be individuals 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) or "Use of Tiered Genetic Sequencing and Specialty Referral for Identifying and Managing Rare Genetic Causes of Chronic Suppurative Respiratory Disease" (External study #: 26-1761). Probands may have a disease under investigation or be healthy volunteers.
- Biological relatives: biologically related to a proband participant.
- 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.
Show all 11Show fewer
- 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.
Who cannot join
- Any condition that, in the opinion of the investigator, contraindicates participation in this study is a reason for exclusion.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
- Recruiting
Children's National Health System
Washington D.C., District of Columbia, 20010
Michael Keller, MD, 202-476-5843, mkeller@childrensnational.org
About this study
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.
Read more
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.
Read the detailed description
Investigators at the National Institute of Allergy and Infectious Diseases (NIAID) use next-generation sequencing technologies to help determine genetic contributions to immune diseases. These efforts have increased rates of molecular diagnosis for a subset of NIAID
participants as well as uncovered fundamental insights into the cellular and signaling pathways in host defense and immune regulation.
Despite these successes, analysis and interpretation of genomic data remain a substantial challenge. Simply, researchers do not understand the functional and clinical consequences of most human genetic variation. This is true at NIAID and across the intramural research program. Making progress in this area requires a coordinated, systematic, and transparent approach to clinical genomics research.
This protocol is specific to genetic testing and explicitly aims to both strengthen clinical care and enhance research throughout participating programs at the NIH. Probands will provide biological specimens for genetic testing and will be required to be enrolled on a primary protocol, which will execute the primary clinical and research evaluations. This protocol serves as a vehicle for a
programmatic effort that includes standardized phenotyping, test ordering through the Clinical Research Information System (CRIS), sample collection and isolation, nucleic acid analysis, bioinformatics, clinical interpretation, reporting in CRIS, genetic counseling, and supporting effective use of genomics as a research tool throughout the intramural program. Genetic testing results and data (upon request) will be shared with the research teams for protocols on which a given participant is co-enrolled. Overall, increased process standardization will support data integrity and efficiency while still accommodating the need for investigator flexibility.
- Conditions
- Atopy, Primary Immunodeficiency, Autoimmunity, Autoinflammation
- Keywords
- Phenotyping, Genetics, Sequencing, Inborn Errors of Immunity, Genomics, Natural History
- Medical subject headings
- Primary Immunodeficiency Diseases, Autoimmune Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Biological relatives | Biological relatives of probands, who may or may not also be co-enrolled on the proband's referring protocol. | |
| Healthy volunteers | Select internal controls | |
| Probands | Participants with a disease under investigation by another NIAID protocol on which they are enrolled, either at the NIH or CNHS. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identifying novel genetic defects associated with immune disorders
Identifying novel genetic defects associated with immune disorders
Measured: Upon analysis of genomic data
Identifying novel clinical phenotypes associated with established genetic defects
Identifying novel clinical phenotypes associated with established genetic defects
Measured: Upon analysis of genomic data
Identifying established genetic disorders of the immune system
Identifying established genetic disorders of the immune system, as well as known genetic disorders outside of the immune system in some cases
Measured: Upon analysis of genomic data
Secondary outcomes (1)
Evidence base for how to improve clinical genomic services on this protocol and related programs.
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.
Measured: 5.1.1. Enrollment/Baseline Report Comprehension Survey and Semi-Structured Phone Interviews
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jul 2017
- Study start31 Jul 2017
- Primary completion1 Jul 2042 (estimated)
- Study completion1 Jul 2042 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for AtopyStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 20,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Institute of Mental Health (NIMH)
- Responsible party
- Sponsor
- Investigators
- Morgan N Similuk, Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03206099
- Sponsor's protocol ID
- 170122
- Other IDs
- 17-I-0122
- Status last verified
- 22 Oct 2026
- First submitted
- 30 Jun 2017
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: The PI is on maternity leave and will discuss when they return
Publications
Zainab R, Kaur S, Lack J, Similuk M, Tandon M, Ghosh R, Seifert BA, Tokita M, Flippo C, Yan J, Walkiewicz M, Chittiboina P, Tatsi C. Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease. Pituitary. 2025 Aug 14;28(5):92. doi: 10.1007/s11102-025-01557-6.
PubMed 40813536Beers BJ, Similuk MN, Ghosh R, Seifert BA, Jamal L, Kamen M, Setzer MR, Jodarski C, Duncan R, Hunt D, Mixer M, Cao W, Bi W, Veltri D, Karlins E, Zhang L, Li Z, Oler AJ, Jevtich K, Yu Y, Hullfish H, Bielekova B, Frischmeyer-Guerrerio P, Dang Do A, Huryn LA, Olivier KN, Su HC, Lyons JJ, Zerbe CS, Rao VK, Keller MD, Freeman AF, Holland SM, Franco LM, Walkiewicz MA, Yan J. Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity. Front Immunol. 2023 May 5;14:1172004. doi: 10.3389/fimmu.2023.1172004. eCollection 2023.
PubMed 37215141Ferre EMN, Yu Y, Oikonomou V, Hilfanova A, Lee CR, Rosen LB, Burbelo PD, Vazquez SE, Anderson MS, Barocha A, Heller T, Soldatos A, Holland SM, Walkiewicz MA, Lionakis MS. Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype. Front Immunol. 2023 Feb 17;14:1133387. doi: 10.3389/fimmu.2023.1133387. eCollection 2023.
PubMed 36875114Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA. Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24.
PubMed 35753512
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- NIAID Centralized Sequencing Protocol
- ClinicalTrials.gov ID
- NCT03206099
- Acronym / sponsor ID
- 170122
- Conditions
- Atopy, Primary Immunodeficiency, Autoimmunity, Autoinflammation
- Keywords
- Phenotyping, Genetics, Sequencing, Inborn Errors of Immunity, Genomics, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20,000 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Collaborators
- National Institute of Mental Health (NIMH)
- Study start
- 31 Jul 2017 (actual)
- Primary completion
- 1 Jul 2042 (estimated)
- Study completion
- 1 Jul 2042 (estimated)
- First posted
- 2 Jul 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Investigators at the National Institute of Allergy and Infectious Diseases (NIAID) use next-generation sequencing technologies to help determine genetic contributions to immune diseases. These efforts have increased rates of molecular diagnosis for a subset of NIAID
participants as well as uncovered fundamental insights into the cellular and signaling pathways in host defense and immune regulation.
Despite these successes, analysis and interpretation of genomic data remain a substantial challenge. Simply, researchers do not understand the functional and clinical consequences of most human genetic variation. This is true at NIAID and across the intramural research program. Making progress in this area requires a coordinated, systematic, and transparent approach to clinical genomics research.
This protocol is specific to genetic testing and explicitly aims to both strengthen clinical care and enhance research throughout participating programs at the NIH. Probands will provide biological specimens for genetic testing and will be required to be enrolled on a primary protocol, which will execute the primary clinical and research evaluations. This protocol serves as a vehicle for a
programmatic effort that includes standardized phenotyping, test ordering through the Clinical Research Information System (CRIS), sample collection and isolation, nucleic acid analysis, bioinformatics, clinical interpretation, reporting in CRIS, genetic counseling, and supporting effective use of genomics as a research tool throughout the intramural program. Genetic testing results and data (upon request) will be shared with the research teams for protocols on which a given participant is co-enrolled. Overall, increased process standardization will support data integrity and efficiency while still accommodating the need for investigator flexibility.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Biological relatives | – | –Biological relatives of probands, who may or may not also be co-enrolled on the proband's referring protocol. |
| Healthy volunteers | – | –Select internal controls |
| Probands | – | –Participants with a disease under investigation by another NIAID protocol on which they are enrolled, either at the NIH or CNHS. |
Who may qualify
- Ages
- 1 day to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Probands and their biological relatives (primarily clinical), recruited from NIAID protocols (both at the NIH and CNHS).
Key inclusion criteria (11 listed)
- Must fulfill one of the following criteria:
- 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).
Key exclusion criteria (1 listed)
- Any condition that, in the opinion of the investigator, contraindicates participation in this study is a reason for exclusion.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
1 secondary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Derived from this study: PubMed 40813536Zainab R, Kaur S, Lack J, Similuk M, Tandon M, Ghosh R, Seifert BA, Tokita M, Flippo C, Yan J, Walkiewicz M, Chittiboina P, Tatsi C. Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease. Pituitary. 2025 Aug 14;28(5):92. doi: 10.1007/s11102-025-01557-6.
- Derived from this study: PubMed 37215141Beers BJ, Similuk MN, Ghosh R, Seifert BA, Jamal L, Kamen M, Setzer MR, Jodarski C, Duncan R, Hunt D, Mixer M, Cao W, Bi W, Veltri D, Karlins E, Zhang L, Li Z, Oler AJ, Jevtich K, Yu Y, Hullfish H, Bielekova B, Frischmeyer-Guerrerio P, Dang Do A, Huryn LA, Olivier KN, Su HC, Lyons JJ, Zerbe CS, Rao VK, Keller MD, Freeman AF, Holland SM, Franco LM, Walkiewicz MA, Yan J. Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity. Front Immunol. 2023 May 5;14:1172004. doi: 10.3389/fimmu.2023.1172004. eCollection 2023.
- Derived from this study: PubMed 36875114Ferre EMN, Yu Y, Oikonomou V, Hilfanova A, Lee CR, Rosen LB, Burbelo PD, Vazquez SE, Anderson MS, Barocha A, Heller T, Soldatos A, Holland SM, Walkiewicz MA, Lionakis MS. Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype. Front Immunol. 2023 Feb 17;14:1133387. doi: 10.3389/fimmu.2023.1133387. eCollection 2023.
- Derived from this study: PubMed 35753512Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA. Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. The PI is on maternity leave and will discuss when they return
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Morgan N Similuk principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Atopy and Primary Immunodeficiency, run by National Institute of Allergy and Infectious Diseases (NIAID) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Morgan N Similuk ((301) 435-6691, morgan.similuk@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identifying novel genetic defects associated with immune disorders (time frame: Upon analysis of genomic data). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03206099, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.