NCT03985501

DREPAMASSE Study - Evaluation of a Newborn Screening for Sickle Cell Disease by Tandem Mass Spectrometry

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 1,431 (actual)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 1 Day – 27 Days
• Healthy volunteers: Not accepted

Summary

Three methods are actually used in newborn screening for sickle cell disease (SCD) in France: isoelectric focusing, high performance liquid chromatography and capillary electrophoresis. New technologies are currently under development such as Matrix Assisted Laser Desorption Ionisation - Time of Flight (MALDI-TOF) and tandem mass spectrometry (MS/MS) using the SpOtOn Diagnostics Reagent Kit available in United Kingdom only. Zentech company (Liège, Belgium) is developing a package for SCD newborn screening using MS/MS technology. The main objective of the present study will be to compare this new technique with the technique actually used in the hospital center of Lille (sub-contractor for SCD newborn screening of Lyon) and the haemoglobin analysis to test its accuracy (sensitivity and specificity).

Conditions

• Sickle Cell Disease
• Infant, Newborn, Disease
• Drepanocytosis

Interventions

Type	Name	Description
OTHER	SCD newborn screening with the MS/MS method from Zentech	The analysis of the SCD newborn screening with the MS/MS method from Zentech will be realized after achievement and biological validation of the SCD newborn screening in the usual care pathway. The results will be compared with the method used at the Lille Academic Hospital (CHU Lille) (sub-contractor for SCD newborn screening of Lyon)

Timeline

• Start date: 2021-03-16
• Primary completion: 2022-12-10
• Completion: 2022-12-10
• First posted: 2019-06-13
• Last updated: 2024-04-17

Locations

3 sites across 1 country: France