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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
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

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.

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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


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




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


Secondary Outcome Measures :
  1. 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


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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

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

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Responsible Party: Laurent Servais, Professor, Centre Hospitalier Régional de la Citadelle
ClinicalTrials.gov Identifier: NCT03554343     History of Changes
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