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

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).

Study Overview

• Status: Completed
• Conditions: Sickle Cell Disease; Infant, Newborn, Disease; Drepanocytosis
• Intervention / Treatment: Other: SCD newborn screening with the MS/MS method from Zentech

• Study Type: Observational
• Enrollment (Actual): 1431

Contacts and Locations

• Study Contact: Name: Dr Céline RENOUX, MD, PhD; Phone Number: +33 04.27.85.65.94; Email: celine.renoux@chu-lyon.fr
• Study Contact Backup: Name: David CHEILLAN, MD, PhD; Phone Number: +33 04 72 12 96 88; Email: david.cheillan@chu-lyon.fr

Study Locations

• France
  • Bron, France, 69677
    • Groupement Hospitalier Est - Hospices Civils de Lyon
  • Lyon, France, 69004,
    • Hopital de la Croix Rousse
  • Pierre-Bénite, France, 69495
    • Centre Hospitalier Lyon Sud

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 3 weeks (Child)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

newborn screening for sickle cell disease; Newborns with a targeted neonatal screening for sickle cell disease carried out at the University Hospital of Lyon

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)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percent agreement between the two techniques	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)	6 months

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start (Actual): March 16, 2021
• Primary Completion (Actual): December 10, 2022
• Study Completion (Actual): December 10, 2022

Study Registration Dates

• First Submitted: June 6, 2019
• First Submitted That Met QC Criteria: June 12, 2019
• First Posted (Actual): June 13, 2019

Study Record Updates

• Last Update Posted (Actual): April 17, 2024
• Last Update Submitted That Met QC Criteria: April 16, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Anemia, Sickle Cell; Infant, Newborn, Diseases
• Other Study ID Numbers: 69HCL19_0338; 2019-A01346-51 (Other Identifier: ID-RCB)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No