Spinal Muscular AtrophyNCT03554343
Sun May Arise on SMA : Newborn Screening of Spinal Muscular Atrophy in Belgium
An observational study of Spinal Muscular Atrophy, run by Centre Hospitalier Régional de la Citadelle at 1 site in Belgium.
Trial summary
Medico-economic study of Newborn screening of Spinal Muscular Atrophy Read more about this study
- Who is it for?
- Ages Up to 7 days
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- test for SMN1 exon 7 deletion
- How many people
- 136,339 participants
- Where
- 1 siteBelgium
- Study dates
- 5 Mar 2018to 28 Feb 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 7 days
- All sexes
- No healthy volunteers
- Child
Study population: All newborns
Who may be able to join
- All newborns in southern Belgium
Who cannot join
- Newborns whose parents refuse screening
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Sun May Arise on SMA : Newborn Screening of SMA in Belgium
Medico-economic study of Newborn screening of Spinal Muscular Atrophy
Read the 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.
- Conditions
- Spinal Muscular Atrophy
- Being tested
- test for SMN1 exon 7 deletion
- Keywords
- newborn screening
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
test for SMN1 exon 7 deletionDiagnostic test
Newborns are screened for SMN1 exon 7 deletion through standard NBS practice Positive case are promptly referred to reference centers
| Study group | Role | What they receive |
|---|---|---|
| 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) Receives: Diagnostic Test: test for SMN1 exon 7 deletion |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cases detected
Number of cases detected, false negative and false positive cases
Measured: march 2018-March 2021
Secondary outcomes (1)
Incidence of SMA
to gather epidemiological data on SMA in Wallonia-Brussels Federation (carrier frequency, number of cases/year).
Measured: March 2018-March 2021
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jun 2018
- Study start5 Mar 2018
- Primary completion28 Feb 2021
- Study completion28 Feb 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Ecologic or community
- Time perspective
- Prospective
- Enrolment
- 136,339 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Régional de la Citadelle
- Sponsor type
- University, hospital or other
- Collaborators
- AveXis, Inc., Biogen, Roche Pharma AG, Association Belge contre les Maladies neuro Musculaires
- Responsible party
- Principal investigator, Laurent Servais, Centre Hospitalier Régional de la Citadelle
- Investigators
- Laurent Servais, MD, PhD, Principal investigator, CRMN
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03554343
- Sponsor's protocol ID
- B412201734396
- Status last verified
- Mar 2021
- First submitted
- 31 May 2018
- Last updated
- 10 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 31030938
Study at a glance
From the registry record, last updated by the sponsor on 10 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sun May Arise on SMA : Newborn Screening of SMA in Belgium
- ClinicalTrials.gov ID
- NCT03554343
- Acronym / sponsor ID
- B412201734396
- Conditions
- Spinal Muscular Atrophy
- Keywords
- newborn screening
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 136,339 participants (actual)
- Lead sponsor
- Centre Hospitalier Régional de la CitadelleUniversity, hospital or other
- Collaborators
- AveXis, Inc., Biogen, Roche Pharma AG, Association Belge contre les Maladies neuro Musculaires
- Study start
- 5 Mar 2018 (actual)
- Primary completion
- 28 Feb 2021 (actual)
- Study completion
- 28 Feb 2021 (actual)
- First posted
- 13 Jun 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Medico-economic study of Newborn screening of Spinal Muscular Atrophy
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 design
- Observational model
- Ecologic or community
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| All newborn from Southern Belgium | – | Diagnostic Test: test for SMN1 exon 7 deletionAll newborns except newborns for which parents refuse newborn screening will be tested for exon 7 deletion in survival motor neuron 1 (SMN1) |
Who may qualify
- Ages
- Up to 7 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- All newborns
Key inclusion criteria (1 listed)
- All newborns in southern Belgium
Key exclusion criteria (1 listed)
- Newborns whose parents refuse screening
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| test for SMN1 exon 7 deletionNewborns are screened for SMN1 exon 7 deletion through standard NBS practice Positive case are promptly referred to reference centers | Diagnostic test | All newborn from Southern Belgium |
Primary outcome
Cases detected
Time frame: march 2018-March 2021
Number of cases detected, false negative and false positive cases
1 secondary outcome
Incidence of SMA
Time frame: March 2018-March 2021
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Mar 2021.
- Results publication: PubMed 31030938Boemer 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laurent Servais, MD, PhD principal investigator
CRMN
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Centre Hospitalier Régional de la Citadelle at 1 site in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cases detected (time frame: march 2018-March 2021). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03554343, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Mar 2021.