NCT03206099

NIAID Centralized Sequencing Protocol

Recruiting now Last updated 17 April 2026

What this trial tests

trial in Atopy in 20,000 participants. Currently enrolling.

Timeline

31 July 2017

Primary endpoint
31 December 2029

31 December 2029

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	20,000
Start date	31 July 2017
Primary completion	31 December 2029
Estimated completion	31 December 2029
Sites	2 locations across United States

Conditions studied

• Atopy — all drugs for Atopy →
• Primary Immunodeficiency — all drugs for Primary Immunodeficiency →
• Autoimmunity — all drugs for Autoimmunity →
• Autoinflammation — all drugs for Autoinflammation →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Adults 1 Day to 100, any sex, with Atopy or Primary Immunodeficiency. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
   Similuk MN, Yan J, Ghosh R, Oler AJ, et al · · 2022 · cited 47× · PMID 35753512 · DOI 10.1016/j.jaci.2022.06.009
2. Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
   Mohsin N, Hunt D, Yan J, Jabbour AJ, et al · · 2024 · cited 10× · PMID 38170500 · DOI 10.1001/jamadermatol.2023.5362
3. Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
   Schmitz EG, Paul AJ, Ghosh R, Saucier N, et al · · 2026 · cited 4× · PMID 41654260 · DOI 10.1016/j.jaci.2026.01.023
4. Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
   Beers BJ, Similuk MN, Ghosh R, Seifert BA, et al · · 2023 · cited 4× · PMID 37215141 · DOI 10.3389/fimmu.2023.1172004
5. Clinical relevance of mosaic variants detected by exome sequencing.
   Ghosh R, Fazal Z, Oler AJ, Tokita MJ, et al · · 2026 · cited 3× · PMID 41724404 · DOI 10.1016/j.jaci.2026.02.011
6. Case report: Discovery of a <i>de novo FAM111B</i> pathogenic variant in a patient with an APECED-like clinical phenotype.
   Ferré EMN, Yu Y, Oikonomou V, Hilfanova A, et al · · 2023 · cited 3× · PMID 36875114 · DOI 10.3389/fimmu.2023.1133387
7. Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome.
   Larsen IG, Moses RG, Seifert BA, Liu S, et al · · 2024 · cited 2× · PMID 39494246 · DOI 10.1016/j.bpsgos.2024.100391
8. Successful Treatment of Refractory Cutaneous Protothecosis With MAT2203, an Oral Lipid Nanocrystal Formulation of Amphotericin B.
   Pechacek J, Schmitt MM, Ferrè EMN, Webb T, et al · · 2024 · cited 2× · PMID 39091644 · DOI 10.1093/ofid/ofae428