Neonatal Spinal Muscular Atrophy (SMA) Screening (SMA)

February 14, 2024 updated by: Kaohsiung Medical University Chung-Ho Memorial Hospital

Study on the Neonatal Screening of Spinal Muscular Atrophy

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

250000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Taiwan
      • Kaohsiung, Taiwan, 807
        • Recruiting
        • Kaohsiung Medical University Chung-Ho Memorial Hospital
        • Principal Investigator:
          • Yuh-Jyh Jong, MD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 2 weeks (Child)

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

Neonates whose parents agree to be tested.

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Kaohsiung Medical University Chung-Ho Memorial Hospital

Collaborators

The Chinese Foundation of Health
Taipei Institute of Pathology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2017

Primary Completion (Estimated)

December 31, 2030

Study Completion (Estimated)

December 31, 2030

Study Registration Dates

First Submitted

July 12, 2017

First Submitted That Met QC Criteria

July 12, 2017

First Posted (Actual)

July 14, 2017

Study Record Updates

Last Update Posted (Actual)

February 16, 2024

Last Update Submitted That Met QC Criteria

February 14, 2024

Last Verified

January 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SMA-NBS001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

There is not a plan to make IPD available

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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