Shortening the Path to Rare Disease Diagnosis by Using Newborn Genetic Screening and Digital Technologies (SCREEN4CARE): Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Newborn Screening
- Sponsor
- University Hospital Freiburg
- Enrollment
- 20000
- Locations
- 6
- Primary Endpoint
- TREAT-panel
- Status
- Recruiting
- Last Updated
- 9 months ago
Overview
Brief Summary
The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention. Therefore, genetic newborn screening for currently treatable rare diseases (TREAT-panel approach) will be offered to families expecting a baby. Whole genome sequencing (WGS) will be offered as additional diagnostic approach to newborns participating in Screen4Care TREAT-panel approach, if they develop symptoms suggestive of a genetic disease.
To evaluate to what extend genetic newborn screening has an impact on participating infants and their families, a follow-up with standardised questionnaires will be performed for all participating families.
Investigators
Jan Kirschner
Prof. Dr.
University Hospital Freiburg
Eligibility Criteria
Inclusion Criteria
- •TREAT-panel:
- •Infants born in one of the participating hospitals and birth centres
- •Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel)
- •Whole genome sequencing:
- •Participation in the TREAT-panel study
- •Symptoms suggestive of a genetic disease within the first 2 years of life
- •Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing
Exclusion Criteria
- •Missing informed consent of parents/legal guardian
Outcomes
Primary Outcomes
TREAT-panel
Time Frame: 1 year
• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
Whole Genome Sequencing
Time Frame: 2 years
• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
Secondary Outcomes
- TREAT-panel(1 year)
- Whole Genome Sequencing(2 years)