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

NCT03985501 | Completed

• 2 other identifiers: 69HCL19_03382019-A01346-51
• Study Type: observational
• Target: 1,431
• Locations: 1 country
• Sites: 3

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).

Conditions

Sickle Cell Disease; Infant, Newborn, Disease; Drepanocytosis

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

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

Interventions

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)

newborn screening for sickle cell disease

Eligibility Criteria

• Age: 1 Day - 27 Days
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (3)

Groupement Hospitalier Est - Hospices Civils de Lyon

Bron, 69677, France

Location

Hopital de la Croix Rousse

Lyon, 69004,, France

Location

Centre Hospitalier Lyon Sud

Pierre-Bénite, 69495, France

Location

MeSH Terms

Conditions

Anemia, Sickle Cell; Disease; Sickle Cell Trait

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 6, 2019
• First Posted: June 13, 2019
• Study Start: March 16, 2021
• Primary Completion: December 10, 2022
• Study Completion: December 10, 2022
• Last Updated: April 17, 2024

Record last verified: 2024-04

Locations

FR (3)