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

Completed

• Conditions: Drepanocytosis; Sickle Cell Disease; Infant, Newborn, Disease

• Registration Number: NCT03985501
• Lead Sponsor: Hospices Civils de Lyon

Brief 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).

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2019-06-06
• Study First Submitted QC: 2019-06-12
• Study First Posted: 2019-06-13
• Study Start: 2021-03-16
• Primary Completion: 2022-12-10
• Study Completion: 2022-12-10
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-16
• Last Update Posted: 2024-04-17

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1431

Inclusion Criteria

• Infants with SCD newborn screening conducted in the hospital center of Lyon

Exclusion Criteria

• Insufficient quantity of sampling
• Parents' opposition to their newborn's participation in the study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Percent agreement between the two techniques	6 months	Non-inferiority (difference \<1%) in terms of sensitivity and specificity between the results obtained with the MS/MS method and those obtained with the technique currently used at the Lille CHU (sub-contractor for SCD newborn screening of Lyon)

Trial Locations

Locations (3)

Groupement Hospitalier Est - Hospices Civils de Lyon; 🇫🇷 Bron, France

Hopital de la Croix Rousse; 🇫🇷 Lyon, France

Centre Hospitalier Lyon Sud; 🇫🇷 Pierre-Bénite, France