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Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) (GEMINI)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03890679
Recruitment Status : Active, not recruiting
First Posted : March 26, 2019
Last Update Posted : March 14, 2022
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
Information provided by (Responsible Party):
Tufts Medical Center

Tracking Information
First Submitted Date  ICMJE March 11, 2019
First Posted Date  ICMJE March 26, 2019
Last Update Posted Date March 14, 2022
Actual Study Start Date  ICMJE May 24, 2019
Estimated Primary Completion Date April 1, 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: March 25, 2019)
  • 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.)
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: March 25, 2019)
  • 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
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
Official Title  ICMJE Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
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.
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE Pediatric: Genetic Syndrome
Intervention  ICMJE Diagnostic Test: rapid whole genomic sequencing (rWGS)
rWGS and NewbornDx are genomic sequencing platforms
Other Name: NewbornDx
Study Arms  ICMJE Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Active, not recruiting
Estimated Enrollment  ICMJE
 (submitted: March 25, 2019)
400
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE August 1, 2023
Estimated Primary Completion Date April 1, 2023   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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)
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 1 Day to 1 Year   (Child)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03890679
Other Study ID Numbers  ICMJE JHUSIRB00000007
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
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
Supporting Materials: Statistical Analysis Plan (SAP)
Supporting Materials: Informed Consent Form (ICF)
Supporting Materials: Clinical Study Report (CSR)
Supporting Materials: 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.
Current Responsible Party Tufts Medical Center
Original Responsible Party Same as current
Current Study Sponsor  ICMJE Tufts Medical Center
Original Study Sponsor  ICMJE Same as current
Collaborators  ICMJE
  • Rady Children's Hospital, San Diego
  • Children's Hospital Medical Center, Cincinnati
  • MOUNT SINAI HOSPITAL
  • N.C. Children's Hospital
  • University of Pittsburgh
Investigators  ICMJE
Principal Investigator: Jill L Maron, MD, MPH Women and Infants Hospital of Rhode Island
Principal Investigator: Jonathan M Davis, MD Tufts Medical Center
PRS Account Tufts Medical Center
Verification Date March 2022

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP