Sun May Arise on SMA : Newborn Screening of Spinal Muscular Atrophy in Belgium

Centre Hospitalier Régional de la Citadelle136,339 enrolled

Overview

Medico-economic study of Newborn screening of Spinal Muscular Atrophy

The aim of this project is to demonstrate the feasibility and the medico-economic impact of a spinal muscular atrophy neonatal screening in a European country. We propose a 3-year-neonatal screening program in Southern Belgium (Wallonia-Brussels Federation) where there is 59.000 newborns/year, among whom 6 are affected by spinal muscular atrophy.

Study Type

OBSERVATIONAL

Enrollment

136,339

Conditions

Spinal Muscular Atrophy

Interventions

test for SMN1 exon 7 deletionDIAGNOSTIC_TEST

Newborns are screened for SMN1 exon 7 deletion through standard NBS practice Positive case are promptly referred to reference centers

Eligibility

Sex: ALLMax age: 7 Days

Medical Language ↔ Plain English

Inclusion Criteria: * All newborns in southern Belgium Exclusion Criteria: * Newborns whose parents refuse screening

Locations (1)

CRMN, Hôpital La Citadelle

Liège, Wallonia, Belgium

Outcomes

Primary Outcomes

Cases detected

Number of cases detected, false negative and false positive cases

Time frame: march 2018-March 2021

Secondary Outcomes

Incidence of SMA

to gather epidemiological data on SMA in Wallonia-Brussels Federation (carrier frequency, number of cases/year).

Time frame: March 2018-March 2021

Data from ClinicalTrials.gov

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