NCT03554343

Brief Summary

Medico-economic study of Newborn screening of Spinal Muscular Atrophy

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
136,339

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Mar 2018

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 5, 2018

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

May 31, 2018

Completed
13 days until next milestone

First Posted

Study publicly available on registry

June 13, 2018

Completed
2.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

March 10, 2021

Status Verified

March 1, 2021

Enrollment Period

3 years

First QC Date

May 31, 2018

Last Update Submit

March 8, 2021

Conditions

Spinal Muscular Atrophy

Keywords

newborn screening

Outcome Measures

Primary Outcomes (1)

  • Cases detected

    Number of cases detected, false negative and false positive cases

    march 2018-March 2021

Secondary Outcomes (1)

  • Incidence of SMA

    March 2018-March 2021

Study Arms (1)

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

Interventions

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

All newborn from Southern Belgium

Eligibility Criteria

AgeUp to 7 Days
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

All newborns

You may qualify if:

  • All newborns in southern Belgium

You may not qualify if:

  • Newborns whose parents refuse screening

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CRMN, Hôpital La Citadelle

Liège, Wallonia, 4000, Belgium

Location

Related Publications (1)

  • 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.

    PMID: 31030938RESULT

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

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesMotor Neuron DiseaseNeurodegenerative DiseasesNeuromuscular Diseases

Study Officials

  • Laurent Servais, MD, PhD

    CRMN

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
ECOLOGIC OR COMMUNITY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

May 31, 2018

First Posted

June 13, 2018

Study Start

March 5, 2018

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

March 10, 2021

Record last verified: 2021-03

Data Sharing

IPD Sharing
Will not share

Locations

BE(1)