Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project (SCREEN4CARE)

University Hospital Freiburg

Status: Enrolling

Conditions: Newborn Screening

Treatments: Diagnostic Test: newborn genetic screening and whole genome sequencing

Study type: Interventional

Funder types: Other

Identifiers

NCT06549218

101034427

Details and patient eligibility

About

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.

Enrollment: 20,000 estimated patients

Sex: All

Ages: Under 2 years old

Volunteers: Accepts Healthy Volunteers

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-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

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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20,000 participants in 1 patient group

newborn screening

Other group

Description:

All newborns participating in the study will receive a genetic newborn screening for predefined treatable diseases. Newborns participating in the TREAT-panel developing symptoms suggestive of a genetic disease during the first 2 years of life can receive whole genome sequencing.

Treatment:

Diagnostic Test: newborn genetic screening and whole genome sequencing