Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) (GEMINI)
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ClinicalTrials.gov Identifier: NCT03890679 |
Recruitment Status :
Active, not recruiting
First Posted : March 26, 2019
Last Update Posted : March 14, 2022
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The Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) is a research study aimed at comparing the clinical and economic utility of performing rapid whole genomic sequencing versus a targeted genomic sequencing panel on neonates and infants suspected of having a genetic disorder. This study is funded by the National Institutes of Health.
This multicenter, prospective clinical trial will enroll 400 subjects at the Floating Hospital for Children at Tufts Medical Center (Boston, MA), Cincinnati Children's Hospital Medical Center (Cincinnati, OH), Mount Sinai Kravis Children's Hospital (New York, NY), North Carolina Children's Hospital (Chapel Hill, NC), Children's Hospital of Pittsburgh (Pittsburgh, PA), and Rady Children's Hospital (San Diego, CA).
Condition or disease | Intervention/treatment | Phase |
---|---|---|
Pediatric: Genetic Syndrome | Diagnostic Test: rapid whole genomic sequencing (rWGS) | Not Applicable |
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 400 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Diagnostic |
Official Title: | Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) |
Actual Study Start Date : | May 24, 2019 |
Estimated Primary Completion Date : | April 1, 2023 |
Estimated Study Completion Date : | August 1, 2023 |
- Diagnostic Test: rapid whole genomic sequencing (rWGS)
rWGS and NewbornDx are genomic sequencing platformsOther Name: NewbornDx
- The number of subjects with a confirmed genetic disorder detected by NewbornDx [ Time Frame: 1-2 weeks ]If NewbornDx diagnoses a genetic disorder
- The number of subjects with a confirmed genetic disorder detected by rWGS [ Time Frame: 1-2 weeks ]If rWGS diagnoses a genetic disorder
- Time in hours to a positive result by NewbornDx [ Time Frame: 1-2 weeks ]Duration of time (hours) to determine diagnosis by NewbornDx
- Time in hours to a positive result by rWGS [ Time Frame: 1-2 weeks ]Duration of time (hours) to determine diagnosis by rWGS
- Perception of the clinical utility of genomic sequencing [ Time Frame: 1 week ]The Clinician Assessment of Clinical Utility assessed by physician survey using units on a likert scale with 1 meaning not useful at all and 5 meaning very useful
- Clinical utility of genomic sequencing as assessed by changes in clinical care management [ Time Frame: 1 week ]The Clinician Assessment of Clinical Utility assessed by physician survey selecting the specific types of 35 possible management changes (i.e. surgical intervention implemented, medication changed, etc.)
- One year cost-effectiveness of standard of care (SOC), NewbornDx and rWGS testing [ Time Frame: 5 years ]All three care platforms will be assessed for their cost-effectiveness based on Quality-Adjusted-Life Year. Qualities are assessed on a scale ranging from 0 (deceased) to 1 (perfect health).
- Lifetime cost-effectiveness of SOC, NewbornDx and rWGS testing [ Time Frame: 5 years ]All three care platforms will be assessed for their cost-effectiveness based on Quality-Adjusted-Life Year. Qualities are assessed on a scale ranging from 0 (deceased) to 1 (perfect health).
- User satisfaction with the clinical reference database providing physician-specific information about treatments, resources and ongoing clinical trials regarding the genetic disorder diagnosed: likert scale [ Time Frame: 5 years ]The Clinician Satisfaction with Return of Genomic Testing Information survey assessed by physicians using units on a likert scale with 1 meaning not useful at all and 5 meaning very useful

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: | up to 1 Year (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Documented informed consent from the parent/guardian
- Signs/symptoms consistent with a possible genetic disorder
- Admitted to a hospital participating in this study at the time of enrollment
- Less than one year corrected gestational age
Exclusion Criteria:
- A known genetic diagnosis (e.g. prenatal testing)
- Major congenital anomaly associated with a chromosomal anomaly detected on prenatal testing
- Presence of documented congenital infection
- Infants considered non-viable due to prematurity (< 23 0/7 weeks GA)

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): NCT03890679
United States, California | |
Rady Children's Hospital - San Diego | |
San Diego, California, United States, 92123 | |
United States, Massachusetts | |
Tufts Medical Center | |
Boston, Massachusetts, United States, 02111 | |
United States, New York | |
Icahn School of Medicine at Mount Sinai | |
New York, New York, United States, 10029 | |
United States, North Carolina | |
University of North Carolina at Chapel Hill | |
Chapel Hill, North Carolina, United States, 27599 | |
United States, Ohio | |
Cincinnati Children's Hospital Medical Center | |
Cincinnati, Ohio, United States, 45229 | |
United States, Pennsylvania | |
University of Pittsburgh Medical Center | |
Pittsburgh, Pennsylvania, United States, 15213 |
Principal Investigator: | Jill L Maron, MD, MPH | Women and Infants Hospital of Rhode Island | |
Principal Investigator: | Jonathan M Davis, MD | Tufts Medical Center |
Responsible Party: | Tufts Medical Center |
ClinicalTrials.gov Identifier: | NCT03890679 |
Other Study ID Numbers: |
JHUSIRB00000007 |
First Posted: | March 26, 2019 Key Record Dates |
Last Update Posted: | March 14, 2022 |
Last Verified: | March 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | Sequencing data that relates genomic data to phenotype or other biological states will be generated and released in accordance to the NIH GDS Policy. Data, including genome sequences (fastq files), variants (vcf files), and associated HIPAA compliant clinical metadata will be deposited in the Longitudinal Pediatric Data Resource (LPDR; https://www.nbstrn.org/research-tools/longitudinal-pediatric-data-resource). The LPDR, in turn, will deposit data in the NCBI dbGAP. Variants with ACMG recommended pathogenicity assessments will be deposited in ClinVar. Novel disorder gene assertions will be deposited in ClinGen (https://clinicalgenome.org/). |
Supporting Materials: |
Study Protocol Statistical Analysis Plan (SAP) Informed Consent Form (ICF) Clinical Study Report (CSR) Analytic Code |
Time Frame: | Annual data submissions supplemented by specific dataset deposits as manuscripts arising from this work are submitted for publication. |
Access Criteria: | Individual level data will be made available through controlled access. Genomic Summary Results will be made available through unrestricted access. |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |