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History of Changes for Study: NCT03890679
Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) (GEMINI)
Latest version (submitted March 11, 2022) on ClinicalTrials.gov
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Study Record Versions
Version A B Submitted Date Changes
1 March 25, 2019 None (earliest Version on record)
2 April 18, 2019 Study Status
3 May 17, 2019 Study Status
4 June 25, 2019 Recruitment Status, Study Status, Contacts/Locations and Oversight
5 January 22, 2020 Contacts/Locations and Study Status
6 March 9, 2021 Study Status
7 March 11, 2022 Recruitment Status, Contacts/Locations, Study Status and Study Identification
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Study NCT03890679
Submitted Date:  March 25, 2019 (v1)

Open or close this module Study Identification
Unique Protocol ID: JHUSIRB00000007
Brief Title: Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) (GEMINI)
Official Title: Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
Secondary IDs:
Open or close this module Study Status
Record Verification: March 2019
Overall Status: Not yet recruiting
Study Start: March 21, 2019
Primary Completion: April 1, 2023 [Anticipated]
Study Completion: August 1, 2023 [Anticipated]
First Submitted: March 11, 2019
First Submitted that
Met QC Criteria:
March 25, 2019
First Posted: March 26, 2019 [Actual]
Last Update Submitted that
Met QC Criteria:
March 25, 2019
Last Update Posted: March 26, 2019 [Actual]
Open or close this module Sponsor/Collaborators
Sponsor: Tufts Medical Center
Responsible Party: Sponsor
Collaborators: Rady Children's Hospital, San Diego
Children's Hospital Medical Center, Cincinnati
MOUNT SINAI HOSPITAL
N.C. Children's Hospital
University of Pittsburgh
Open or close this module Oversight
U.S. FDA-regulated Drug: No
U.S. FDA-regulated Device: No
Data Monitoring: Yes
Open or close this module Study Description
Brief Summary:

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).

Detailed Description: This multicenter, prospective clinical trial will examine the diagnostic yield and clinical utility of NewbornDx, a targeted genomic sequencing panel for use in the neonate, and rapid whole genomic sequencing (rWGS) testing in high-risk infants with signs/symptoms consistent with a possible genetic disorder. Infants will undergo NewbornDx and rWGS (proband) testing. The biological parent(s), when available, will undergo NewbornDx testing at the same time as the infant. For rWGS,the infant will undergo testing first. If a specific diagnosis that is consistent with the phenotype is not made with rWGS proband analysis alone, the parent(s) will undergo rWGS. The study will also evaluate the cost effectiveness of each test as well as standard of care (SOC) testing. A retrospective chart review of infants with suspected genetic disorders will be done to understand 1-year cost and health outcomes that would have been incurred in the absence of the advanced testing. The resulting data from the trial will be used in the economic evaluation comparing NewbornDx, rWGS, and SOC over a 1-year period and used as basis to simulate the lifetime cost-effectiveness of these testing strategies. A web-based clinical reference database to provide references, clinical management guidelines, opportunities for clinical trial participation, and support groups for each condition will be developed with separate interfaces for the parent/guardian(s) and medical provider. The clinical reference database will be qualitatively assessed by a survey of medical providers.
Open or close this module Conditions
Conditions: Pediatric: Genetic Syndrome
Keywords:
Open or close this module Study Design
Study Type: Interventional
Primary Purpose: Diagnostic
Study Phase: Not Applicable
Interventional Study Model: Single Group Assignment
Number of Arms:
Masking: None (Open Label)
Allocation: N/A
Enrollment: 400 [Anticipated]
Open or close this module Arms and Interventions
Intervention Details:
Diagnostic Test: rapid whole genomic sequencing (rWGS)
rWGS and NewbornDx are genomic sequencing platforms
Other Names:
  • NewbornDx
Open or close this module Outcome Measures
Primary Outcome Measures:
1. The number of subjects with a confirmed genetic disorder detected by NewbornDx
[ Time Frame: 1-2 weeks ]

If NewbornDx diagnoses a genetic disorder
2. The number of subjects with a confirmed genetic disorder detected by rWGS
[ Time Frame: 1-2 weeks ]

If rWGS diagnoses a genetic disorder
3. Time in hours to a positive result by NewbornDx
[ Time Frame: 1-2 weeks ]

Duration of time (hours) to determine diagnosis by NewbornDx
4. Time in hours to a positive result by rWGS
[ Time Frame: 1-2 weeks ]

Duration of time (hours) to determine diagnosis by rWGS
5. 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
6. 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.)
Secondary Outcome Measures:
1. 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).
2. 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).
3. 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
Open or close this module Eligibility
Minimum Age: 1 Day
Maximum Age: 1 Year
Sex: All
Gender Based:
Accepts Healthy Volunteers: No
Criteria:

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)
Open or close this module Contacts/Locations
Central Contact Person: Anne Kurfiss, MPH
Telephone: 617-636-7134
Email: akurfiss@tuftsmedicalcenter.org
Study Officials: Jill L Maron, MD, MPH
Principal Investigator
Floating Hospital for Children at Tufts Medical Center
Jonathan M Davis, MD
Principal Investigator
Floating Hospital for Children at Tufts Medical Center
Locations:
Open or close this module IPDSharing
Plan to Share IPD: Yes
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 Information:
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.
URL:
Open or close this module References
Citations:
Links:
Available IPD/Information:

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