Newborn Screening for Spinal Muscular Atrophy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02123186

Enrollment

120267

Registered

2014-04-25

Start date

2013-10-31

Completion date

2016-10-31

Last updated

2016-11-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Spinal Muscular Atrophy

Keywords

Newborn Screening , spinal muscular atrophy

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.

Interventions

OTHERnewborn screening test for SMA

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

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Days to 3 Months

Healthy volunteers

Yes

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.

Design outcomes

Primary

Measure	Time frame
numbers of newborn with spinal muscular atrophy	18 months

Countries

Taiwan

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Mar 9, 2026