Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project: the French Participation

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DIJON · Jul 26, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on improving how we screen newborns for rare genetic diseases. Currently, newborn screening usually looks for a limited number of conditions that can be treated if caught early. This study aims to use advanced genetic testing to screen newborns for a wider variety of treatable genetic disorders. By analyzing DNA from a small blood sample, the hope is to identify genetic diseases sooner, which can lead to early treatment and better outcomes for the babies.

To participate, newborns must be less than 28 days old and born at Dijon University Hospital, with consent from both parents or legal guardians. If infants show early symptoms of a rare genetic disease but do not test positive in the initial screening, they may also be eligible for further genetic testing. Parents can expect to be involved in the process and will sign consent forms to ensure they understand the study. This trial not only seeks to enhance early detection but also aims to explore new treatment opportunities, potentially benefiting many families in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • For step 1
• • Newborns less than 28 days, born in the maternity of Dijon University Hospital
• • Informed consent signed by both parents/legal guardian/minor parents with parental authority over their child to participate in the present S4C study
• • For the exploratory interviews, voluntary parents to participate
• • For step 2
• • Early symptoms (within 24 months of life) suggestive of a rare genetic disease in infants resulted negative at the TREAT-panel gNBS
• • Informed consent signed by both parents to participate in GS study
• Exclusion Criteria:
• • Both steps
• • Parents subject to a measure of legal protection (guardianship, tutorship)
• • Parents subject to a court order
• • Parents incapable of expressing consent
• • Parents who is not affiliated with the national health insurance system
• • For step 1 - Any newborn in which clinical considerations preclude drawing 1.0 ml of blood for the additional blotting paper
• • For step 2
• • - Infants not screened by TREAT-panel gNBS