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NCT05687474: BabyDetect

Baby Detect : Genomic Newborn Screening

Completed Last updated 12 August 2025
What this trial tests

trial in Congenital Adrenal Hyperplasia in 6,824 participants. Completed in 2 June 2025.

Timeline
1 September 2022
Primary endpoint
2 June 2025
2 June 2025

Quick facts

Lead sponsorCentre Hospitalier Universitaire de Liege
StatusCompleted
Study typeOBSERVATIONAL
Enrollment6,824
Start date1 September 2022
Primary completion2 June 2025
Estimated completion2 June 2025
Sites1 location across Belgium

Conditions studied

Sponsor

Centre Hospitalier Universitaire de Liege

Who can join

Under 28 Days, any sex, with Congenital Adrenal Hyperplasia or Familial Hyperinsulinemic Hypoglycemia 1. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Publications & conference data

4 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Population-based, first-tier genomic newborn screening in the maternity ward.
    Boemer F, Hovhannesyan K, Piazzon F, Minner F, et al · · 2025 · cited 25× · PMID 39875687 · DOI 10.1038/s41591-024-03465-x
  2. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.
    Dangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, et al · · 2024 · cited 7× · PMID 39201861 · DOI 10.3390/children11080926
  3. Systematic Review of Management Strategies for Alport Syndrome: Implications for Male Patients.
    Sarfraz Z, Khan A, Liaqat M, Khan A, et al · · 2025 · cited 1× · PMID 40165927 · DOI 10.1002/hsr2.70595
  4. Analytical Validation of a Genomic Newborn Screening Workflow.
    Hovhannesyan K, Helou L, Charloteaux B, Jacquemin V, et al · · 2025 · PMID 41133703 · DOI 10.3390/ijns11040091

Verify or expand the search:

Other recruiting trials for Congenital Adrenal Hyperplasia

Currently open trials in the same condition.

Other Centre Hospitalier Universitaire de Liege trials

Trials by the same sponsor.

Verify against primary sources

Data sources for this page

Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT05687474.

Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing