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
Study Sites (1)
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