Back to resultsA Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry (LysoNeo)
Primary Purpose
Neonatal Screening, Lysosomal Storage Diseases
Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Additional blood sampling
Sponsored by
About this trial
This is an interventional diagnostic trial for Neonatal Screening
Eligibility Criteria
Inclusion Criteria:
- 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
Exclusion Criteria:
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.
Sites / Locations
- Caen University HospitalRecruiting
- Rouen University HospitalRecruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
neonates tested in Normandie, France
Arm Description
All neonates will be tested in Normandie
Outcomes
Primary Outcome Measures
Number of newborns in relation to the number of cases of blotting paper collected
Secondary Outcome Measures
Number of newborns with positive sample for Mucopolysaccharidosis type I
Number of newborns with positive sample for Pompe disease
Full Information
NCT ID
NCT04393701
First Posted
May 14, 2020
Last Updated
October 19, 2021
Sponsor
University Hospital, Rouen
Collaborators
University Hospital, Caen
1. Study Identification
Unique Protocol Identification Number
NCT04393701
Brief Title
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Acronym
LysoNeo
Official Title
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Study Type
Interventional
2. Study Status
Record Verification Date
October 2021
Overall Recruitment Status
Recruiting
Study Start Date
March 8, 2021 (Actual)
Primary Completion Date
March 2024 (Anticipated)
Study Completion Date
March 2024 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Rouen
Collaborators
University Hospital, Caen
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
Brief 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 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).
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Neonatal Screening, Lysosomal Storage Diseases
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
100000 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
neonates tested in Normandie, France
Arm Type
Experimental
Arm Description
All neonates will be tested in Normandie
Intervention Type
Procedure
Intervention Name(s)
Additional blood sampling
Intervention Description
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
Primary Outcome Measure Information:
Title
Number of newborns in relation to the number of cases of blotting paper collected
Time Frame
From day 2 to day 4
Secondary Outcome Measure Information:
Title
Number of newborns with positive sample for Mucopolysaccharidosis type I
Time Frame
From day 2 to day 4
Title
Number of newborns with positive sample for Pompe disease
Time Frame
From day 2 to day 4
10. Eligibility
Sex
All
Minimum Age & Unit of Time
1 Day
Maximum Age & Unit of Time
4 Days
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
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
Exclusion Criteria:
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.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Soumeya BEKRI, Pr
Phone
+3323288
Ext
8990
Email
soumeya.bekri@chu-rouen.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Julien BLOT
Phone
+3323288
Ext
8265
Email
julien.blot@chu-rouen.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Soumeya BEKRI, Pr
Organizational Affiliation
Rouen University Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
Caen University Hospital
City
Caen
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
David GUENET, MD
Facility Name
Rouen University Hospital
City
Rouen
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Soumeya BEKRI
Phone
+3323288
Ext
8990
Email
soumeya.bekri@chu-rouen.fr
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
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