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.|
|ClinicalTrials.gov Identifier: NCT02225522|
Recruitment Status : Completed
First Posted : August 26, 2014
Last Update Posted : June 23, 2017
|Condition or disease||Intervention/treatment||Phase|
|Diseases/Diagnoses Genetic Disease||Other: Rapid whole genome sequencing (StatSeq)||Not Applicable|
Show Detailed Description
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||65 participants|
|Intervention Model:||Parallel Assignment|
|Masking:||Double (Participant, Care Provider)|
|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|
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.
- 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.
- 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
- 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
- Number of Consults [ Time Frame: 28 days ]Total number of consultations including follow up required during hospitalization
- Cost Effectiveness [ Time Frame: 28 days ]Determination of utilization of healthcare resources in hospital charges in both arms
- Length of Stay [ Time Frame: After 12 months ]Length of stay in days to discharge.
- Number of Deaths [ Time Frame: After 12 months ]Number of deaths in each group
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): NCT02225522
|United States, Missouri|
|Children's Mercy Hospital|
|Kansas City, Missouri, United States, 64108|
|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|