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

March 8, 2021 updated by: Laurent Servais, Centre Hospitalier Régional de la Citadelle

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

Medico-economic study of Newborn screening of Spinal Muscular Atrophy

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

136339

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Belgium
    • Wallonia
      • Liege, Wallonia, Belgium, 4000
        • CRMN, Hôpital La Citadelle

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 1 week (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

All newborns

Description

Inclusion Criteria:

  • All newborns in southern Belgium

Exclusion Criteria:

  • Newborns whose parents refuse screening

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cases detected
Time Frame: march 2018-March 2021
Number of cases detected, false negative and false positive cases
march 2018-March 2021

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Incidence of SMA
Time Frame: March 2018-March 2021
to gather epidemiological data on SMA in Wallonia-Brussels Federation (carrier frequency, number of cases/year).
March 2018-March 2021

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Régional de la Citadelle

Collaborators

Roche Pharma AG
Biogen
AveXis, Inc.
Association Belge contre les Maladies neuro Musculaires

Investigators

  • Principal Investigator: Laurent Servais, MD, PhD, CRMN

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 5, 2018

Primary Completion (Actual)

February 28, 2021

Study Completion (Actual)

February 28, 2021

Study Registration Dates

First Submitted

May 31, 2018

First Submitted That Met QC Criteria

May 31, 2018

First Posted (Actual)

June 13, 2018

Study Record Updates

Last Update Posted (Actual)

March 10, 2021

Last Update Submitted That Met QC Criteria

March 8, 2021

Last Verified

March 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • B412201734396

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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