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Genomic Sequencing in Acutely Ill Neonates (NSIGHT)

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. Identifier: NCT02225522
Recruitment Status : Completed
First Posted : August 26, 2014
Last Update Posted : June 23, 2017
Information provided by (Responsible Party):
Children's Mercy Hospital Kansas City

Brief Summary:
The purpose of this study is to compare the effectiveness of rapid next generation sequencing (NGS, such as whole genome sequencing1) with current practice to provide diagnostic or prognostic information or treatment guidance in acutely ill neonates and infants, particularly with respect to clinical care, cost and outcomes.

Condition or disease Intervention/treatment Phase
Diseases/Diagnoses Genetic Disease Other: Rapid whole genome sequencing (StatSeq) Not Applicable

  Show Detailed Description

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 65 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Double (Participant, Care Provider)
Primary Purpose: Diagnostic
Official Title: Prospective Randomized Trial of the Clinical Utility of Rapid Next Generation Sequencing in Acutely Ill Neonates
Study Start Date : October 2014
Actual Primary Completion Date : July 2016
Actual Study Completion Date : September 2016

Arm Intervention/treatment
No Intervention: Standard Care
Patients in this arm receive standard genetic evaluation without the addition of next generation sequencing for the diagnosis of their presumed genetic condition
Experimental: Rapid whole genome sequencing (StatSeq)
Patients in this arm will receive standard of care genetic evaluation and next generation sequencing of their genome to achieve rapid diagnosis of genetic conditions.
Other: Rapid whole genome sequencing (StatSeq)
Patients in this arm will received standard genetic testing, the Perkins Elmer StepOne expanded newborn screen and the rapid whole genome sequencing (StatSeq). the receipt of the StatSeq testing is the different factor between arms. the standard genetic testing includes any testing that is clinically available to the attending physician that would normally be ordered for the patient if not enrolled in this study.

Primary Outcome Measures :
  1. Molecular Diagnosis Made [ Time Frame: 28 days ]
    If randomized to the Rapid Genome Sequencing group, did the testing result in a molecular diagnosis for the patient with three weeks of receipt of the DNA in the lab.

  2. Time to Molecular Diagnosis [ Time Frame: 28 days ]
    How many days from enrollment were required in our to achieve a molecular diagnosis in the infant

  3. Change in Clinical Management [ Time Frame: 28 days ]
    If randomized to the Rapid Genome Sequencing group and a molecular diagnosis achieved, did it provide a change in clinical management as determined by a survey of primary care team attending via a survey

Secondary Outcome Measures :
  1. Number of Consults [ Time Frame: 28 days ]
    Total number of consultations including follow up required during hospitalization

  2. Cost Effectiveness [ Time Frame: 28 days ]
    Determination of utilization of healthcare resources in hospital charges in both arms

Other Outcome Measures:
  1. Length of Stay [ Time Frame: After 12 months ]
    Length of stay in days to discharge.

  2. Number of Deaths [ Time Frame: After 12 months ]
    Number of deaths in each group

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 4 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria: One of the following criteria required.

  • Clinical genetic testing or a genetic consult is ordered
  • Subject has one major structural anomaly or three or more minor anomalies
  • Abnormal laboratory testing suggestive of a genetic disease
  • Abnormal response to standard therapy for a major underlying condition

Exclusion Criteria:

  • Previously confirmed genetic diagnosis that explains the clinical condition
  • Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)

Information from the National Library of Medicine

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 identifier (NCT number): NCT02225522

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United States, Missouri
Children's Mercy Hospital
Kansas City, Missouri, United States, 64108
Sponsors and Collaborators
Children's Mercy Hospital Kansas City
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Principal Investigator: Stephen Kingsmore, MB BAO ChB Rady Children's Hospital
Principal Investigator: Steve Leeder, PhD Children's Mercy Hospital and Clinics
Study Director: Laurel K Willig, MD Children's Mercy Hospital and Clinics
Principal Investigator: Joshua E Petrikin, MD Children's Mercy Hospital Kansas City

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Responsible Party: Children's Mercy Hospital Kansas City Identifier: NCT02225522     History of Changes
Other Study ID Numbers: HD13-010
First Posted: August 26, 2014    Key Record Dates
Last Update Posted: June 23, 2017
Last Verified: September 2016
Keywords provided by Children's Mercy Hospital Kansas City:
Intensive Care Units, Neonatal
Infant, Newborn
Genetic Diseases, Inborn
Additional relevant MeSH terms:
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Genetic Diseases, Inborn