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

NCT ID: NCT03554343

Last Updated: 2021-03-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

136339 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-03-05

Study Completion Date

2021-02-28

Brief Summary

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Medico-economic study of Newborn screening of Spinal Muscular Atrophy

Detailed Description

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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.

Conditions

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Spinal Muscular Atrophy

Study Design

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Observational Model Type

ECOLOGIC_OR_COMMUNITY

Study Time Perspective

PROSPECTIVE

Study Groups

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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)

test for SMN1 exon 7 deletion

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* All newborns in southern Belgium

Exclusion Criteria

* Newborns whose parents refuse screening
Maximum Eligible Age

7 Days

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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AveXis, Inc.

INDUSTRY

Sponsor Role collaborator

Biogen

INDUSTRY

Sponsor Role collaborator

Roche Pharma AG

INDUSTRY

Sponsor Role collaborator

Association Belge contre les Maladies neuro Musculaires

UNKNOWN

Sponsor Role collaborator

Centre Hospitalier Régional de la Citadelle

OTHER

Sponsor Role lead

Responsible Party

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Laurent Servais

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Laurent Servais, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

CRMN

Locations

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CRMN, Hôpital La Citadelle

Liège, Wallonia, Belgium

Site Status

Countries

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Belgium

References

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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.

Reference Type RESULT
PMID: 31030938 (View on PubMed)

Other Identifiers

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B412201734396

Identifier Type: -

Identifier Source: org_study_id

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