NCT03290469 (NICU-Seq) is a NA clinical trial of clinical whole genome sequencing (cWGS) in Rare Diseases, sponsored by Illumina, Inc..

Who is sponsoring NCT03290469?

NCT03290469 is sponsored by Illumina, Inc..

What drugs are being tested in NCT03290469?

Interventions in NCT03290469: clinical whole genome sequencing (cWGS).

What condition does NCT03290469 study?

NCT03290469 studies Rare Diseases.

Is NCT03290469 still recruiting?

NCT03290469 is currently completed. Last updated 18 November 2020.

Last reviewed 2020-11-18 · How we verify

NCT03290469: NICU-Seq

Name: Drug Landscape Pharmaceutical Database
Creator: Drug Landscape
Published: 2026-01-01
License: https://creativecommons.org/licenses/by/4.0/

NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants

Completed NA Last updated 18 November 2020

What this trial tests

NA trial testing clinical whole genome sequencing (cWGS) in Rare Diseases in 355 participants. Completed in 13 January 2020.

Timeline

14 September 2017

Primary endpoint
30 April 2019

13 January 2020

Quick facts

Lead sponsor	Illumina, Inc.
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	triple
Primary purpose	other
Enrollment	355
Start date	14 September 2017
Primary completion	30 April 2019
Estimated completion	13 January 2020
Sites	5 locations across United States

Drugs / interventions tested

clinical whole genome sequencing (cWGS)

Conditions studied

Rare Diseases — all drugs for Rare Diseases →

Sponsor

Illumina, Inc. — full company profile →

Who can join

Adults 1 Day to 120 Days, any sex, with Rare Diseases. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue to receive standard of care until Day 60. The standard of care group will receive cWGS and a clinical report at Day 60 as part of secondary and tertiary analyses. Both groups will be followed for a total of 90 days.

Publications & conference data

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

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
NICUSeq Study Group, Krantz ID, Medne L, Weatherly JM, et al · · 2021 · cited 142× · PMID 34570182 · DOI 10.1001/jamapediatrics.2021.3496
Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.
Ontario Health (Quality) . · · 2020 · cited 43× · PMID 32194879
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Rosano KK, Wegner DJ, Shinawi M, Baldridge D, et al · · 2021 · cited 5× · PMID 33931933 · DOI 10.1002/ajmg.a.62219

Verify or expand the search:

Other recruiting trials for Rare Diseases

Currently open trials in the same condition.

NCT06595940 — Genetic Analysis of Uncommon Disease Presentations in Non-US Populations · recruiting
NCT07247279 — Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia · recruiting
NCT07102966 — Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas · NA · recruiting
NCT06856902 — BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe · NA · recruiting
NCT06926127 — Genomic Profiling of Genetic and Rare Diseases · NA · recruiting

Other Illumina, Inc. trials

Trials by the same sponsor.

NCT05049967 — iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders · active not recruiting
NCT04561102 — Evaluation of the COVIDSeq Test in Nasal Swab and Saliva From a COVID-19 Asymptomatic Population · completed
NCT04561089 — Evaluation of the COVIDSeq Test in Saliva Specimens From COVID-19 Asymptomatic Illumina Personnel · completed
NCT04170985 — NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology · completed
NCT03620110 — A Study Collecting Blood Samples From Pregnant Women to Aid in the Development of a Noninvasive Prenatal Test · completed

Verify against primary sources

ClinicalTrials.gov — authoritative US registry record
WHO ICTRP — international registry index
EU Clinical Trials Register
Sponsor press releases (Google)

Data sources for this page

Trial protocol + status: ClinicalTrials.gov NCT03290469 (US National Library of Medicine, public domain)
Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by Illumina, Inc.
Last refreshed: 18 November 2020

Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT03290469.

Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing