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

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).

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Key information

Conditions

Sickle Cell Disease Anemia Anemia, Hemolytic Anemia, Hemolytic, Congenital Anemia, Sickle Cell Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Drepanocytosis Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Infant, Newborn, Disease Pathologic Processes Pathological Conditions, Signs and Symptoms Sickle Cell Trait

Age range

1 day–27 day

Sex eligibility

All sexes

Study type

Observational

Primary location

Groupement Hospitalier Est - Hospices Civils de Lyon, Bron, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

SCD newborn screening with the MS/MS method from Zentech

Other

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)

Primary outcomes

Percent agreement between the two techniques

Time frame: 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)

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Acronym: DREPAMASSE

Important dates

Study start: 2021
Primary completion: 2022
Study completion: 2022
First posted: Jun 13, 2019
Registry last updated: Apr 17, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed