Last reviewed · How we verify
NCT05290701: EPES
Evaluating Prenatal Exome Sequencing Study
trial in Congenital Anomalies in 235 participants. Participants enrolled and being followed up; not accepting new ones.
1 October 2025
Quick facts
| Lead sponsor | Leiden University Medical Center |
|---|---|
| Status | Active, enrolled |
| Study type | OBSERVATIONAL |
| Enrollment | 235 |
| Start date | 21 February 2022 |
| Primary completion | 1 October 2025 |
| Estimated completion | 1 October 2026 |
| Sites | 1 location across Netherlands |
Conditions studied
- Congenital Anomalies — all drugs for Congenital Anomalies →
- Mendelian Disorders — all drugs for Mendelian Disorders →
- Genetic Diseases, Inborn — all drugs for Genetic Diseases, Inborn →
Sponsor
Leiden University Medical Center
Who can join
18 and older, any sex, with Congenital Anomalies or Mendelian Disorders. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT05290701
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for Congenital Anomalies
Currently open trials in the same condition.
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Other Leiden University Medical Center trials
Trials by the same sponsor.
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- NCT07498738 — Making Diabetes Care Fit for Young Adults Living With Type 1 Diabetes: Observations, Reflections and Expert Opinions · NA · not yet recruiting
- NCT06545292 — Microsampling for Therapeutic Drug Monitoring of Oral Oncolytics in Oncology Patients · NA · recruiting
- NCT07021495 — SKIN Disease Profiling by an Exploratory, pRospective, Biomarker Study in dermatoloGY Practice (SKINERGY) · 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 NCT05290701 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Leiden University Medical Center
- Last refreshed: 6 March 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/NCT05290701.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing