Neonatal Spinal Muscular Atrophy (SMA) Screening | NCT03217578

Studies
Neonatal Spinal Muscular Atrophy (SMA) Screening

NCT03217578

Sponsor

Kaohsiung Medical University Chung-Ho Memorial Hospital

Status

Recruiting

Last Update Posted

Feb 16, 2024Actual

Enrollment

250,000Estimated

Phase

Not provided

Conditions

Spinal Muscular Atrophy

Interventions

SMA Newborn Screening

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

Jan 2024

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 1, 2017Actual

Primary Completion Date

Dec 31, 2030Estimated

Completion Date

Dec 31, 2030Estimated

First Submitted Date

Jul 12, 2017

First Submission Date that Met QC Criteria

Jul 12, 2017

First Posted Date

Jul 14, 2017Actual

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

Feb 14, 2024

Last Update Posted Date

Feb 16, 2024Actual

Name	Class
The Chinese Foundation of Health	UNKNOWN
Taipei Institute of Pathology	OTHER_GOV

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

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

Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.

Detailed Description

Not provided

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

250,000Estimated

Name	Type	Description	Arm Group Labels	Other Names
SMA Newborn Screening	Other

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Number of neonates with confirmed the deletion of 2 copies of SMN1 gene	Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test	3 years

Secondary Outcomes

Measure	Description	Time Frame
Number of neonates with confirmed SMA	Neonates with confirmed the deletion of 2 copies of SMN1 gene by MLPA test will be followed till SMA symptoms appear.	3 years

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
Parents or legal guardian agree to perform SMA newborn screening.

Exclusion Criteria:

Parents or legal guardian do not agree to perform SMA newborn screening.

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Weeks

Maximum Age

2 Weeks

Standard Ages

Child

Study Population

Neonates whose parents agree to be tested.

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Yun-Hui Chou	Contact	+886972977320		wendychoucrn@gmail.com

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Kaohsiung Medical University Chung-Ho Memorial Hospital	Recruiting	Kaohsiung City		807	Taiwan

IPD Sharing Statement Module

Plan to Share IPD

Description

There is not a plan to make IPD available

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D009134	Muscular Atrophy, Spinal

Ancestor Terms

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

Browse Leaves

Not provided

Browse Branches

Not provided