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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06629987

Enrollment

360

Registered

2024-10-08

Start date

2021-01-01

Completion date

2022-12-31

Last updated

2024-10-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

PKU

Keywords

screening

Brief summary

studying the screening of PKU in france with the new tandemMS

Detailed description

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

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

3 Days to No maximum

Healthy volunteers

Inclusion criteria

* having screening in france

Exclusion criteria

* refusing neonatal screening

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
screening value	2 years	determining the bets screening value

Countries

France

Outcome results