An observational study in Spinal Muscular Atrophy, sponsored by Centre Hospitalier Régional de la Citadelle. Completed at 1 site in Belgium. Open to participants aged Up to 7 Days. Per ClinicalTrials.gov, last updated 2021-03-10.
Sponsored by Centre Hospitalier Régional de la Citadelle · Observational
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.
494 studies on the registry are indexed under Muscular Atrophy; 94 are open to participants now.
This study's enrollment of 136,339 is above the median of 72 across 139 observational studies indexed under Muscular Atrophy.
Browse Muscular Atrophy studies →Centre Hospitalier Régional de la Citadelle is the lead sponsor of 6 studies on the registry; none are open to participants now.
Counted across the registry records on this site, refreshed daily.
All newborns
Exclusion Criteria:
All newborns except newborns for which parents refuse newborn screening will be tested for exon 7 deletion in survival motor neuron 1 (SMN1)
Diagnostic Test: test for SMN1 exon 7 deletion
Newborns are screened for SMN1 exon 7 deletion through standard NBS practice Positive case are promptly referred to reference centers
Cases detected
Number of cases detected, false negative and false positive cases
Time frame: march 2018-March 2021
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
Plan to share: No
This study is completed, as verified in Mar 2021. You cannot join it, but the record below documents what was studied.
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Centre Hospitalier Régional de la Citadelle