Clinical Trials Logo
  1. Home
  2. Lysosomal Storage Diseases
  3. NCT04393701
  4. Details
NCT04393701 Clinical Trial

A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

Lysosomal Storage Diseases Clinical Trial

— LysoNeo  

Official title:
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT04393701
Other study ID # 2020/007/HP
Secondary ID
Status Recruiting
Phase N/A
First received
Last updated
Start date March 8, 2021
Est. completion date March 2024

Study information
Verified date October 2021
Source University Hospital, Rouen
Contact Soumeya BEKRI, Pr
Phone +3323288
Email soumeya.bekri@chu-rouen.fr
Is FDA regulated No
Health authority
Study type Interventional

Clinical 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 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).

Recruitment information / eligibility
Status Recruiting
Enrollment 100000
Est. completion date March 2024
Est. primary completion date March 2024
Accepts healthy volunteers No
Gender All
Age group N/A to 4 Days
Eligibility 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.

Study Design

Related Conditions & MeSH terms

Intervention

Procedure:
• Additional blood sampling
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program

Locations
Country Name City State
France Caen University Hospital Caen
France Rouen University Hospital Rouen

Sponsors (2)
Lead Sponsor Collaborator
University Hospital, Rouen University Hospital, Caen

Country where clinical trial is conducted

France, 

Outcome
Type Measure Description Time frame Safety issue
Primary Number of newborns in relation to the number of cases of blotting paper collected From day 2 to day 4
Secondary Number of newborns with positive sample for Mucopolysaccharidosis type I From day 2 to day 4
Secondary Number of newborns with positive sample for Pompe disease From day 2 to day 4
See also
  Status Clinical Trial Phase
Completed NCT04455230 - A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 Phase 1/Phase 2
Withdrawn NCT04189601 - Complement Activation in the Lysosomal Storage Disorders
Withdrawn NCT01003912 - Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Phase 1
Active, not recruiting NCT04093349 - A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Phase 1/Phase 2
Completed NCT02363153 - Diet and Exercise in Pompe Disease N/A
Terminated NCT00215527 - Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I Phase 1
Terminated NCT01963650 - Natural History Study of Children With Metachromatic Leukodystrophy
Suspended NCT04399694 - Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
Active, not recruiting NCT03812042 - Screening of Lysosomal Storage Disorders Diseases in Minority Groups
Completed NCT03893240 - Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease N/A
Active, not recruiting NCT03897361 - Stem Cell Gene Therapy for Cystinosis Phase 1/Phase 2
Terminated NCT04040049 - A Fabry Disease Gene Therapy Study Phase 1/Phase 2
Recruiting NCT03812055 - Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
Active, not recruiting NCT04943991 - Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score N/A
Active, not recruiting NCT04283227 - OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD) Phase 3
Recruiting NCT03333200 - Longitudinal Study of Neurodegenerative Disorders
Completed NCT02416661 - Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease
Terminated NCT03853876 - A Natural History Study of Aspartylglucosaminuria
Not yet recruiting NCT06130228 - Nutritional Therapy in Late-onset Pompe Disease Phase 2