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| Name | Class |
|---|---|
| AveXis, Inc. | INDUSTRY |
| Biogen | INDUSTRY |
| Roche Pharma AG | INDUSTRY |
| Association Belge contre les Maladies neuro Musculaires |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| All newborn from Southern Belgium | All newborns except newborns for which parents refuse newborn screening will be tested for exon 7 deletion in survival motor neuron 1 (SMN1) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| test for SMN1 exon 7 deletion | Diagnostic Test | Newborns are screened for SMN1 exon 7 deletion through standard NBS practice Positive case are promptly referred to reference centers |
| Measure | Description | Time Frame |
|---|---|---|
| Cases detected | Number of cases detected, false negative and false positive cases | march 2018-March 2021 |
| Measure | Description | Time Frame |
|---|---|---|
| Incidence of SMA | to gather epidemiological data on SMA in Wallonia-Brussels Federation (carrier frequency, number of cases/year). | March 2018-March 2021 |
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Inclusion Criteria:
Exclusion Criteria:
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All newborns
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| Name | Affiliation | Role |
|---|---|---|
| Laurent Servais, MD, PhD | CRMN | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CRMN, Hôpital La Citadelle | Liège | Wallonia | 4000 | Belgium |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31030938 | Result | Boemer F, Caberg JH, Dideberg V, Dardenne D, Bours V, Hiligsmann M, Dangouloff T, Servais L. Newborn screening for SMA in Southern Belgium. Neuromuscul Disord. 2019 May;29(5):343-349. doi: 10.1016/j.nmd.2019.02.003. Epub 2019 Feb 15. |
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| Type | Date | Date Unknown |
|---|---|---|
| Release | Oct 24, 2023 | |
| Reset | Apr 12, 2024 | |
| Release | Apr 13, 2024 | |
| Reset | Sep 5, 2024 |
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| Release Date | Unrelease Date | Unrelease Date Unknown | Reset Date | MCP Release Number |
|---|---|---|---|---|
| Oct 24, 2023 | Apr 12, 2024 | |||
| Apr 13, 2024 |
| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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| UNKNOWN |
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DNA is exctracted from the Guthrie Dried Blood Test Analysis is performed by the genetic department of Liege University Hospital
| Sep 5, 2024 |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |