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Clinical Trials/NCT02123186
NCT02123186CompletedNot Applicable

Newborn Screening for Spinal Muscular Atrophy

National Taiwan University Hospital1 site in 1 country120,267 target enrollmentStarted: October 2013Last updated:
Conditions

Trial Snapshot

Phase
Not Applicable
Status
Completed
Enrollment
120,267
Locations
1
Primary Endpoint
numbers of newborn with spinal muscular atrophy

Study Overview

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.

Study Design

Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Eligibility Criteria

Ages
2 Days to 3 Months (Child)
Sex
All
Accepts 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.

Outcomes

Primary Outcomes

numbers of newborn with spinal muscular atrophy

Time Frame: 18 months

Secondary Outcomes

No secondary outcomes reported

Investigators

Sponsor Class
Other
Responsible Party
Sponsor

Study Sites (1)

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