Newborn Screening for Spinal Muscular Atrophy | NCT02123186

Studies
Newborn Screening for Spinal Muscular Atrophy

NCT02123186

Sponsor

National Taiwan University Hospital

Status

Completed

Last Update Posted

Nov 2, 2016Estimated

Enrollment

120,267Actual

Phase

Not provided

Conditions

Spinal Muscular Atrophy

Interventions

newborn screening test for SMA

Countries

Taiwan

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2016

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 2013

Primary Completion Date

Oct 2016Actual

Completion Date

Oct 2016Actual

First Submitted Date

Apr 21, 2014

First Submission Date that Met QC Criteria

Apr 23, 2014

First Posted Date

Apr 25, 2014Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Oct 31, 2016

Last Update Posted Date

Nov 2, 2016Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Detailed Description

Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

120,267Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
newborns testing for SMA			Other: newborn screening test for SMA

Interventions

Name	Type	Description	Arm Group Labels	Other Names
newborn screening test for SMA	Other	Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.	newborns testing for SMA

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
numbers of newborn with spinal muscular atrophy		18 months

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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.

Exclusion Criteria:

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

2 Days

Maximum Age

3 Months

Standard Ages

Child

Study Population

newborns whose parents agree to be tested

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Yin-Hsiu Chien, M.D., PhD.	National Taiwan University Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
National Taiwan University Hospital		Taipei	Taiwan	100	Taiwan

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
28711173	Derived	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.

ID	Term
D013118	Spinal Cord Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases
D016472	Motor Neuron Disease