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NCT04393701: LysoNeo
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
NA trial testing Additional blood sampling in Neonatal Screening in 100,000 participants. Currently enrolling.
8 December 2026
Quick facts
| Lead sponsor | University Hospital, Rouen |
|---|---|
| Phase | NA |
| Status | Recruiting now |
| Study type | INTERVENTIONAL |
| Allocation | na |
| Design | single group |
| Masking | none |
| Primary purpose | diagnostic |
| Enrollment | 100,000 |
| Start date | 8 March 2021 |
| Primary completion | 8 December 2026 |
| Estimated completion | 8 December 2026 |
| Sites | 2 locations across France |
Drugs / interventions tested
- Additional blood sampling — full drug profile →
Conditions studied
- Neonatal Screening — all drugs for Neonatal Screening →
- Lysosomal Storage Diseases — all drugs for Lysosomal Storage Diseases →
Sponsor
University Hospital, Rouen
Who can join
Adults 1 Day to 4 Days, any sex, with Neonatal Screening or Lysosomal Storage Diseases. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target. The primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT04393701
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
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Other recruiting trials for Neonatal Screening
Currently open trials in the same condition.
- NCT06192511 — Implementing a Novel Consent Process for Biospecimen Research After Newborn Screening · NA · recruiting
Other University Hospital, Rouen trials
Trials by the same sponsor.
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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 NCT04393701 (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 University Hospital, Rouen
- Last refreshed: 11 September 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/NCT04393701.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing