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

Centre Hospitalier Régional de la Citadelle

Status: Completed

Conditions: Spinal Muscular Atrophy

Treatments: Diagnostic Test: test for SMN1 exon 7 deletion

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT03554343

B412201734396

Details and patient eligibility

About

Medico-economic study of Newborn screening of Spinal Muscular Atrophy

Full description

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.

Enrollment: 136,339 patients

Sex: All

Ages: Under 7 days old

Volunteers: No Healthy Volunteers

Inclusion criteria

• All newborns in southern Belgium

Exclusion criteria

• Newborns whose parents refuse screening

Trial design

136,339 participants in 1 patient group

All newborn from Southern Belgium

Description:

All newborns except newborns for which parents refuse newborn screening will be tested for exon 7 deletion in survival motor neuron 1 (SMN1)

Treatment:

Diagnostic Test: test for SMN1 exon 7 deletion