Neonatal ScreeningLysoNeoNCT04393701
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
An observational study of Neonatal Screening and Lysosomal Storage Diseases, run by University Hospital, Rouen at 2 sites in France.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 1 day to 4 days
- Conditions the study is for
- Neonatal Screening, Lysosomal Storage Diseases
- What is being tested?
- Additional blood sampling
- Type of treatment
- Surgery or procedure
- How many people
- 100,000 participants
- Where
- 2 sitesFrance
- Study dates
- 8 Mar 2021to 8 Dec 2026
- How long will I take part?
- 1 Day
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 4 days
- All sexes
- No healthy volunteers
- Child
Study population: Newborn
Who may be able to join
- Newborn in a Normandy maternity hospital
- Newborn participating in the National Neonatal Screening Program
- Holder(s) of parental authority having read and understood the information letter and signed the informed consent form
Who cannot join
- There are no criteria for non-inclusion in this study. Participation in the study, such as participation in the National Neonatal Screening Program, is not mandatory.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
Caen University Hospital
Caen
David GUENET, MD
- Recruiting
Rouen University Hospital
Rouen
Soumeya BEKRI, +3323288 ext. 8990, soumeya.bekri@chu-rouen.fr
About this study
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).
- Conditions
- Neonatal Screening, Lysosomal Storage Diseases
- Being tested
- Additional blood sampling
- Medical subject headings
- Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Additional blood samplingProcedure or surgery
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
| Study group | Role | What they receive |
|---|---|---|
| neonates tested in Normandie, France | All neonates will be tested in Normandie Receives: Procedure: Additional blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of newborns in relation to the number of cases of blotting paper collected
Measured: From day 2 to day 4
Secondary outcomes (2)
Number of newborns with positive sample for Mucopolysaccharidosis type I
Measured: From day 2 to day 4
Number of newborns with positive sample for Pompe disease
Measured: From day 2 to day 4
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2020
- Study start8 Mar 2021
- Primary completion8 Dec 2026 (estimated)
- Study completion8 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neonatal ScreeningStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 100,000 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- University Hospital, Rouen
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital, Caen
- Responsible party
- Sponsor
- Investigators
- Soumeya BEKRI, Pr, Principal investigator, University Hospital, Rouen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04393701
- Sponsor's protocol ID
- 2020/0007/HP
- Acronym
- LysoNeo
- Status last verified
- May 2026
- First submitted
- 14 May 2020
- Last updated
- 27 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
- ClinicalTrials.gov ID
- NCT04393701
- Acronym / sponsor ID
- LysoNeo / 2020/0007/HP
- Conditions
- Neonatal Screening, Lysosomal Storage Diseases
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100,000 participants (estimated)
- Lead sponsor
- University Hospital, RouenUniversity, hospital or other
- Collaborators
- University Hospital, Caen
- Study start
- 8 Mar 2021 (actual)
- Primary completion
- 8 Dec 2026 (estimated)
- Study completion
- 8 Dec 2026 (estimated)
- First posted
- 19 May 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Day
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| neonates tested in Normandie, France | – | Procedure: Additional blood samplingAll neonates will be tested in Normandie |
Who may qualify
- Ages
- 1 day to 4 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Newborn
Key inclusion criteria (3 listed)
- Newborn in a Normandy maternity hospital
- Newborn participating in the National Neonatal Screening Program
- Holder(s) of parental authority having read and understood the information letter and signed the informed consent form
Key exclusion criteria (1 listed)
- There are no criteria for non-inclusion in this study. Participation in the study, such as participation in the National Neonatal Screening Program, is not mandatory.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Additional blood samplingAdditional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program | Procedure or surgery | neonates tested in Normandie, France |
Primary outcome
Number of newborns in relation to the number of cases of blotting paper collected
Time frame: From day 2 to day 4
2 secondary outcomes
Number of newborns with positive sample for Mucopolysaccharidosis type I
Time frame: From day 2 to day 4
Number of newborns with positive sample for Pompe disease
Time frame: From day 2 to day 4
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Soumeya BEKRI, Pr principal investigator
University Hospital, Rouen
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neonatal Screening and Lysosomal Storage Diseases, run by University Hospital, Rouen at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Soumeya BEKRI, Pr (+3323288 ext. 8990, soumeya.bekri@chu-rouen.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of newborns in relation to the number of cases of blotting paper collected (time frame: From day 2 to day 4). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 May 2026.