Sun May Arise on SMA : Newborn Screening of Spinal Muscular Atrophy in Belgium
Completed
- Conditions
- Spinal Muscular Atrophy
- Interventions
- Diagnostic Test: test for SMN1 exon 7 deletion
- Registration Number
- NCT03554343
- Lead Sponsor
- Centre Hospitalier Régional de la Citadelle
- Brief Summary
Medico-economic study of Newborn screening of Spinal Muscular Atrophy
- Detailed 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 136339
Inclusion Criteria
- All newborns in southern Belgium
Exclusion Criteria
- Newborns whose parents refuse screening
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description All newborn from Southern Belgium test for SMN1 exon 7 deletion All newborns except newborns for which parents refuse newborn screening will be tested for exon 7 deletion in survival motor neuron 1 (SMN1)
- Primary Outcome Measures
Name Time Method Cases detected march 2018-March 2021 Number of cases detected, false negative and false positive cases
- Secondary Outcome Measures
Name Time Method Incidence of SMA March 2018-March 2021 to gather epidemiological data on SMA in Wallonia-Brussels Federation (carrier frequency, number of cases/year).
Trial Locations
- Locations (1)
CRMN, Hôpital La Citadelle
🇧🇪Liege, Wallonia, Belgium