Newborn Screening for Spinal Muscular Atrophy

October 31, 2016 updated by: National Taiwan University Hospital
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

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Actual)

120267

Contacts and Locations

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

Study Locations

  • Taiwan
    • Taiwan,
      • Taipei, Taiwan,, Taiwan, 100
        • National Taiwan University Hospital

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

2 days to 3 months (CHILD)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

newborns whose parents agree to be tested

Description

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.

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

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
newborns testing for SMA
Other: newborn screening test for SMA
Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

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

Sponsor

National Taiwan University Hospital

Investigators

  • Principal Investigator: Yin-Hsiu Chien, M.D., PhD., National Taiwan University Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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

October 1, 2013

Primary Completion (ACTUAL)

October 1, 2016

Study Completion (ACTUAL)

October 1, 2016

Study Registration Dates

First Submitted

April 21, 2014

First Submitted That Met QC Criteria

April 23, 2014

First Posted (ESTIMATE)

April 25, 2014

Study Record Updates

Last Update Posted (ESTIMATE)

November 2, 2016

Last Update Submitted That Met QC Criteria

October 31, 2016

Last Verified

April 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 201308058RIND

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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