NCT02123186

Brief Summary

To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy

Trial Health

87
On Track

Trial Health Score

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

Enrollment
120,267

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Oct 2013

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

October 1, 2013

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

April 21, 2014

Completed
4 days until next milestone

First Posted

Study publicly available on registry

April 25, 2014

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2016

Completed
Last Updated

November 2, 2016

Status Verified

April 1, 2016

Enrollment Period

3 years

First QC Date

April 21, 2014

Last Update Submit

October 31, 2016

Conditions

Spinal Muscular Atrophy

Keywords

Newborn Screening , spinal muscular atrophy

Outcome Measures

Primary Outcomes (1)

  • numbers of newborn with spinal muscular atrophy

    18 months

Study Arms (1)

newborns testing for SMA

Other: newborn screening test for SMA

Interventions

newborn screening test for SMAOTHER

Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.

newborns testing for SMA

Eligibility Criteria

Age2 Days - 3 Months
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

newborns whose parents agree to be tested

You may qualify if:

  • Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
  • Parents or Legal Guardian sign in the informed consent form.

You may not qualify if:

  • Parents or Legal Guardian do not agree to sign in the informed consent form.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Taiwan University Hospital

Taipei, Taiwan, 100, Taiwan

Location

Related Publications (1)

  • Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, Lee WT, Jong YJ, Ko TM, Hwu WL. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. J Pediatr. 2017 Nov;190:124-129.e1. doi: 10.1016/j.jpeds.2017.06.042. Epub 2017 Jul 12.

    PMID: 28711173DERIVED

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

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

Study Officials

  • Yin-Hsiu Chien, M.D., PhD.

    National Taiwan University Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 21, 2014

First Posted

April 25, 2014

Study Start

October 1, 2013

Primary Completion

October 1, 2016

Study Completion

October 1, 2016

Last Updated

November 2, 2016

Record last verified: 2016-04

Locations

TW(1)