Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Recruiting
N/A
Interventional Study
Newborn Screening
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
At a Glance
- Age
- Up to 2
- Sex
- Any
- Study type
- Interventional
- Purpose
- Screening
- Participants needed
- 20,000 (estimated)
- Sponsor
- University Hospital Freiburg · Other
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About This Trial
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 ne…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* TREAT-panel:
* newborns
* 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-p…
Contacts