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

Civil Hospices of Lyon

Status: Completed

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

Treatments: Other: SCD newborn screening with the MS/MS method from Zentech

Study type: Observational

Funder types: Other

Identifiers

NCT03985501

69HCL19_0338

2019-A01346-51 (Other Identifier)

Details and patient eligibility

About

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).

Enrollment: 1,431 patients

Sex: All

Ages: 1 to 27 days old

Volunteers: No Healthy Volunteers

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

Trial design

1,431 participants in 1 patient group

newborn screening for sickle cell disease

Description:

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

Treatment:

Other: SCD newborn screening with the MS/MS method from Zentech