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Early Check: Expanded Screening in Newborns

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: NCT03655223
Recruitment Status : Enrolling by invitation
First Posted : August 31, 2018
Last Update Posted : December 13, 2018
Sponsor:
Collaborators:
University of North Carolina, Chapel Hill
The John Merck Fund
Duke University
Wake Forest University
North Carolina Department of Health and Human Services
National Center for Advancing Translational Science (NCATS)
Cure SMA
The National Fragile X Foundation
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Asuragen, Inc.
Information provided by (Responsible Party):
RTI International

Brief Summary:
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.

Condition or disease Intervention/treatment
Spinal Muscular Atrophy Fragile X Syndrome Fragile X - Premutation Diagnostic Test: Confirmatory Testing

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 400000 participants
Observational Model: Cohort
Time Perspective: Prospective
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


Group/Cohort Intervention/treatment
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.



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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
Any biological specimens collected as part of the study will be incinerated at the conclusion of the study. Specimens utilized during the study that were collected as part of routine State newborn screening or diagnostic confirmatory testing, will be retained by the North Carolina State Laboratory of Public Health (NCSLPH), Ohio State University, and The University of North Carolina (UNC) in accordance with institute record retention policies and protocols.


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 28 Days   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Newborns born in North or South Carolina who are less than four weeks old
Criteria

Inclusion Criteria:

  • Newborn has newborn screening in North Carolina
  • Newborn lives in North Carolina or South Carolina
  • Newborn is less than 4 weeks old
  • Mother must have legal custody of newborn to give permission for participation
  • Mother must be able to interact with the online permission portal (available in English and Spanish) and give permission online

Exclusion Criteria:

  • A newborn screening (NBS) sample is unavailable for the newborn

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 ClinicalTrials.gov identifier (NCT number): NCT03655223


Locations
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United States, North Carolina
RTI International
Research Triangle Park, North Carolina, United States, 27709
Sponsors and Collaborators
RTI International
University of North Carolina, Chapel Hill
The John Merck Fund
Duke University
Wake Forest University
North Carolina Department of Health and Human Services
National Center for Advancing Translational Science (NCATS)
Cure SMA
The National Fragile X Foundation
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Asuragen, Inc.
Investigators
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Principal Investigator: Don Bailey, PhD RTI International

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: RTI International
ClinicalTrials.gov Identifier: NCT03655223     History of Changes
Other Study ID Numbers: 18-0009
U01TR001792-01 ( U.S. NIH Grant/Contract )
HHSN27500003 ( Other Grant/Funding Number: Eunice Kennedy Shriver National Institute of Child Health and Human Development )
First Posted: August 31, 2018    Key Record Dates
Last Update Posted: December 13, 2018
Last Verified: December 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by RTI International:
Newborn Screening
Rare Disorders
Genetic Counseling
Families
Development
Risk

Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Fragile X Syndrome
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System