Sun May Arise on SMA : Newborn Screening of SMA in Belgium

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ClinicalTrials.gov Identifier: NCT03554343

Recruitment Status : Recruiting

First Posted : June 13, 2018

Last Update Posted : November 20, 2018

See Contacts and Locations

Sponsor:

Collaborators:

AveXis, Inc.

Biogen

Roche Pharma AG

Association Belge contre les Maladies neuro Musculaires

Information provided by (Responsible Party):

Laurent Servais, Centre Hospitalier Régional de la Citadelle

Study Description

Brief Summary:

Medico-economic study of Newborn screening of Spinal Muscular Atrophy

Condition or disease	Intervention/treatment
Spinal Muscular Atrophy	Diagnostic Test: test for SMN1 exon 7 deletion

Detailed Description:

The aim of this project is to demonstrate the feasibility, and the medico-economic impact of a SMA neonatal screening in an European country. We propose a 3-year-neonatal screening program in Southern Belgium (Federation Wallonie-Bruxelles, FWB) where there is 59.000 newborns/year, among whom 6 are affected by spinal muscular atrophy.

Study Design

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Study Type :	Observational
Estimated Enrollment :	180000 participants
Observational Model:	Ecologic or Community
Time Perspective:	Prospective
Official Title:	Sun May Arise on SMA : Newborn Screening of SMA in Belgium
Actual Study Start Date :	March 5, 2018
Estimated Primary Completion Date :	March 4, 2021
Estimated Study Completion Date :	July 31, 2021

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: Spinal muscular atrophy

MedlinePlus related topics: Newborn Screening Spinal Muscular Atrophy

Genetic and Rare Diseases Information Center resources: Spinal Muscular Atrophy Amyotrophic Lateral Sclerosis

U.S. FDA Resources

Groups and Cohorts

Group/Cohort	Intervention/treatment
All newborn from Southern Belgium All newborns except newborns for which parents refuse newborn screening will be tested for exon 7 deletion in 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

Outcome Measures

Primary Outcome Measures :

Cases detected [ Time Frame: march 2018-March 2021 ]
Number of cases detected, false negative and false positive cases

Secondary Outcome Measures :

Incidence of SMA [ Time Frame: March 2018-March 2021 ]
to gather epidemiological data on SMA in Federation Wallonie-Bruxelles (carrier frequency, number of cases/year).

Biospecimen Retention: Samples With DNA

DNA is exctracted from the Guthrie Dried Blood Test Analysis is performed by the genetic department of Liege University Hospital

Eligibility Criteria

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Ages Eligible for Study:	up to 7 Days (Child)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

All newborns

Criteria

Inclusion Criteria:

All newborns in southern Belgium

Exclusion Criteria:

Newborns whose parents refuse screening

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03554343

Contacts

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Contact: Laurent Servais, MD, PhD	+33622592243	l.servais@institut-myologie.org

Locations

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Belgium
CRMN, Hôpital La Citadelle	Recruiting
Liege, Wallonia, Belgium, 4000
Contact: Laurent Servais, MD, PhD 33622592243 l.servais@institut-myologie.org
Sub-Investigator: Jean-Hubert Caberg, PhD
Sub-Investigator: Francois Boemer, PhD

Sponsors and Collaborators

Centre Hospitalier Régional de la Citadelle

AveXis, Inc.

Biogen

Roche Pharma AG

Association Belge contre les Maladies neuro Musculaires

Investigators

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Principal Investigator:	Laurent Servais, MD, PhD	CRMN

More Information

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Responsible Party:	Laurent Servais, Professor, Centre Hospitalier Régional de la Citadelle
ClinicalTrials.gov Identifier:	NCT03554343
Other Study ID Numbers:	B412201734396
First Posted:	June 13, 2018 Key Record Dates
Last Update Posted:	November 20, 2018
Last Verified:	November 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

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Studies a U.S. FDA-regulated Drug Product:	No
Studies a U.S. FDA-regulated Device Product:	No

Keywords provided by Laurent Servais, Centre Hospitalier Régional de la Citadelle:


newborn screening

Additional relevant MeSH terms:

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Muscular Atrophy Muscular Atrophy, Spinal Atrophy Pathological Conditions, Anatomical Neuromuscular Manifestations Neurologic Manifestations Nervous System Diseases	Signs and Symptoms Spinal Cord Diseases Central Nervous System Diseases Motor Neuron Disease Neurodegenerative Diseases Neuromuscular Diseases

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