Last reviewed · How we verify
NCT05687474: BabyDetect
Baby Detect : Genomic Newborn Screening
trial in Congenital Adrenal Hyperplasia in 6,824 participants. Completed in 2 June 2025.
2 June 2025
Quick facts
| Lead sponsor | Centre Hospitalier Universitaire de Liege |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 6,824 |
| Start date | 1 September 2022 |
| Primary completion | 2 June 2025 |
| Estimated completion | 2 June 2025 |
| Sites | 1 location across Belgium |
Conditions studied
- Congenital Adrenal Hyperplasia — all drugs for Congenital Adrenal Hyperplasia →
- Familial Hyperinsulinemic Hypoglycemia 1 — all drugs for Familial Hyperinsulinemic Hypoglycemia 1 →
- Phosphoglucomutase 1 Deficiency — all drugs for Phosphoglucomutase 1 Deficiency →
- Maturity Onset Diabetes of the Young — all drugs for Maturity Onset Diabetes of the Young →
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):
-
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 -
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 -
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 -
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:
- PubMed search for NCT05687474
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for Congenital Adrenal Hyperplasia
Currently open trials in the same condition.
- NCT07187375 — Pharmacokinetics, Safety and Tolerability of Crinecerfont in Participants With Congenital Adrenal Hyperplasia Who Are Le · Phase 2 · recruiting
- NCT06573723 — Institutional Registry of Rare Diseases · recruiting
- NCT05669950 — A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia · Phase 1, PHASE2 · recruiting
- NCT06754423 — Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency · recruiting
- NCT04890444 — China Adrenal Disease Registry · recruiting
Other Centre Hospitalier Universitaire de Liege trials
Trials by the same sponsor.
- NCT07408362 — Early Diagnosis and Cardiovascular Risk Stratification in Children Exposed to Cancer Therapies · NA · not yet recruiting
- NCT07159555 — Assessment of Neurofilaments Levels in Premature Newborns: Study of Their Early Development · recruiting
- NCT07453147 — Selective Versus Contiguous Connective Tissue Grafts in the Modified Tunnel Technique · NA · recruiting
- NCT07031518 — Pilot Study to Identify and Validate Digital Biomarkers in Osteoarthritis of the Knee · NA · completed
- NCT06916871 — Optimizing Care for Diabetic Patients in Hospitalized Rehabilitation Through Structured Education · NA · not yet recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT05687474 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Centre Hospitalier Universitaire de Liege
- Last refreshed: 12 August 2025
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