NCT02225522

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
65

participants targeted

Target at P50-P75 for not_applicable

Timeline
Completed

Started Oct 2014

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

August 13, 2014

Completed
13 days until next milestone

First Posted

Study publicly available on registry

August 26, 2014

Completed
1 month until next milestone

Study Start

First participant enrolled

October 1, 2014

Completed
1.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2016

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2016

Completed
Last Updated

June 23, 2017

Status Verified

September 1, 2016

Enrollment Period

1.8 years

First QC Date

August 13, 2014

Last Update Submit

June 22, 2017

Conditions

Diseases/DiagnosesGenetic Disease

Keywords

Intensive Care Units, NeonatalInfant, NewbornGenetic Diseases, Inborn

Outcome Measures

Primary Outcomes (3)

  • Molecular Diagnosis Made

    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.

    28 days

  • Time to Molecular Diagnosis

    How many days from enrollment were required in our to achieve a molecular diagnosis in the infant

    28 days

  • Change in Clinical Management

    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

    28 days

Secondary Outcomes (2)

  • Number of Consults

    28 days

  • Cost Effectiveness

    28 days

Other Outcomes (2)

  • Length of Stay

    After 12 months

  • Number of Deaths

    After 12 months

Study Arms (2)

Standard Care

NO INTERVENTION

Patients in this arm receive standard genetic evaluation without the addition of next generation sequencing for the diagnosis of their presumed genetic condition

Rapid whole genome sequencing (StatSeq)

EXPERIMENTAL

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)

Interventions

Rapid whole genome sequencing (StatSeq)OTHER

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.

Rapid whole genome sequencing (StatSeq)

Eligibility Criteria

AgeUp to 4 Months
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)

You may qualify if:

  • 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's Mercy Hospital

Kansas City, Missouri, 64108, United States

Location

MeSH Terms

Conditions

DiseaseGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Pathologic ProcessesPathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Stephen Kingsmore, MB BAO ChB

    Rady Children's Hospital

    PRINCIPAL INVESTIGATOR

  • Steve Leeder, PhD

    Children's Mercy Hospital and Clinics

    PRINCIPAL INVESTIGATOR

  • Laurel K Willig, MD

    Children's Mercy Hospital and Clinics

    STUDY DIRECTOR

  • Joshua E Petrikin, MD

    Children's Mercy Hospital Kansas City

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
RANDOMIZED
Masking
DOUBLE
Who Masked
PARTICIPANT, CARE PROVIDER
Purpose
DIAGNOSTIC
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 13, 2014

First Posted

August 26, 2014

Study Start

October 1, 2014

Primary Completion

July 1, 2016

Study Completion

September 1, 2016

Last Updated

June 23, 2017

Record last verified: 2016-09

Locations

US(1)