Determining the Most Efficient Screening Cut Off Levels for Phenylketonuria (PKU)

Determining the Most Efficient Screening Cut Off Levels for Phenylketonuria (PKU) by Assessing Two Years of Screening with Tandem Mass Spectrometry (MS) : a French National Cohort Study

studying the screening of PKU in france with the new tandemMS

Study Overview

• Status: Completed
• Conditions: PKU

Detailed Description

Nationwide cohort study of the new pku screening for patient beetwen 180 and 360 µmol/L.

• Study Type: Observational
• Enrollment (Actual): 360

Contacts and Locations

Study Locations

• France
  • Nancy, France, 54000
    • CHRU NANCY hopital enfant

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

all french population born who had a screening

Description

Inclusion Criteria:

• having screening in france

Exclusion Criteria:

• refusing neonatal screening

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
developping an PKU: id phenylanine over 360µmol/L	based on level of phenylalanine during the year of follow up	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
screening value	determining the bets screening value	2 years

Collaborators and Investigators

• Sponsor: Central Hospital, Nancy, France
• Collaborators: Hospices Civils de Lyon; University Hospital, Strasbourg, France; Centre Hospitalier Universitaire Dijon; CHU de Reims; Centre Hospitalier Universitaire, Amiens; University Hospital, Montpellier; University Hospital, Bordeaux; University Hospital, Caen; Rennes University Hospital; University Hospital, Toulouse; University Hospital, Lille; Nantes University Hospital; University Hospital, Tours; Clinical Research Center of Reunion island

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2021
• Primary Completion (Actual): January 1, 2021
• Study Completion (Actual): December 31, 2022

Study Registration Dates

• First Submitted: October 4, 2024
• First Submitted That Met QC Criteria: October 4, 2024
• First Posted (Actual): October 8, 2024

Study Record Updates

• Last Update Posted (Estimated): October 9, 2024
• Last Update Submitted That Met QC Criteria: October 5, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Keywords: screening
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: 2022PI186

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No