Early Check: Expanded Screening in Newborns
|ClinicalTrials.gov Identifier: NCT03655223|
Recruitment Status : Enrolling by invitation
First Posted : August 31, 2018
Last Update Posted : December 13, 2018
|Condition or disease||Intervention/treatment|
|Spinal Muscular Atrophy Fragile X Syndrome Fragile X - Premutation||Diagnostic Test: Confirmatory Testing|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||400000 participants|
|Official Title:||Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns|
|Actual Study Start Date :||October 15, 2018|
|Estimated Primary Completion Date :||June 30, 2021|
|Estimated Study Completion Date :||December 2022|
Newborn infants born in North Carolina
All newborn infants in North Carolina will have the opportunity to participate in Early Check. Those who screen positive for the conditions identified in the study will be subject to confirmatory testing.
Diagnostic Test: Confirmatory Testing
If a newborn's screening test is positive, an experienced genetic counselor will contact the infant's mother by phone to explain the positive screening result and arrange for confirmatory testing and a follow-up appointment. If the confirmatory test is positive, then the child receives a diagnosis of the disease. Children identified with a disorder are referred for treatment, their parents receive information and counseling on what a positive diagnosis means for their child, and they are offered participation in follow-up and registry activities for the disorder.
Birthing Mothers in North Carolina
All birthing mothers in North Carolina will have the opportunity to participate in Early Check.
- Incidence Rates: Number of newborns who screen positive comparative to the whole sample [ Time Frame: Every 6 months for approximately three years ]Incidence rates of infants who screen positive for conditions on the Early Check panel.
- Impact of Screening: Semi-structured parent interviews. [ Time Frame: Measured within 6 months of participant screening results ]Each project year, approximately 20 (and no more than 30) mothers whose newborns screen negative and 20 (and no more than 30) mothers whose newborns screen positive will be invited to participate in an approximately 30-minute, semi-structured telephone interview about their perceptions of Early Check and the impact of screening results.
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03655223
|United States, North Carolina|
|Research Triangle Park, North Carolina, United States, 27709|
|Principal Investigator:||Don Bailey, PhD||RTI International|